## Study
Submission Type	Structural variations
Submitter Last Name	Kawai
Submitter Middle Name
Submitter First Name	Yosuke
Submitter Affiliation	National Center for Global Health and Medicine
Study Title	Standarization of structural variation for genomic medicine
Study Description	Research aimed at standardizing the data structure of structural variation and promoting the registration of genome data to the public databases.
Study Type	Collection
PubMed ID
Publication DOI
BioProject Accession	PRJDB16199
Study URL
Related Study
Study ID	Kawai2024
Submission Date	2024-01-17
Public Release Date	2024-01-19
Last Update Date	2024-01-19

## SampleSet
# SampleSet ID	SampleSet Size	SampleSet Type	SampleSet Name	SampleSet Description	SampleSet Phenotype	SampleSet Population	SampleSet Sex
1	1	Control	NA19079	Structural variation inferred from high depth short read WGS results.		Japanese	Male

## Sample
# BioSample Accession	Sample Name	Subject ID	SampleSet ID	Sample Resource	Sample Cell Type	Sample Attribute	Sample Karyotype	Subject Collection	Subject Phenotype	Subject Population	Subject Karyotype	Subject Sex	Subject Age	Subject Age Units	Subject Maternal ID	Subject Paternal ID
SAMN00000536	NA19079	NA19079	1	CORIELL:NA19079	B-Lymphocyte			HapMap		Japanese		Male

## Experiment
# Experiment ID	Experiment Type	Method Type	Analysis Type	Reference Type	Reference Value	Merged Experiment IDs	Experiment Resolution	Method Platform	Method Description	Analysis Description	Detection Method	Detection Description	External Links
1	Discovery	Sequencing	Split read and paired-end mapping	Assembly	GRCh38		0.001	Illumina NovaSeq 6000	high-coverage analysis of whole genome sequencing	high-coverage analysis of whole genome sequencing	manta	Detect and call structural variation by applying manta to CRAM data analyzed in the International 1000 Genomes Project.	CORIELL:NA19079

## Dataset
# Dataset ID	SampleSet ID	Experiment ID	Number of Chromosomes Sampled	Dataset Description	Linkout URL	submitted/VCF Filename
1	1	1	46	Structural variations of NA19079		submitted/NA19079.manta.QC2.vcf