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dbVar

Database of genomic structural variation

nsv6780621

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:74,000

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 399 SVs from 68 studies. See in: genome view

Submitted genomic29,121,001-29,195,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6780621	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	29,121,001	29,195,000
nsv6780621	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	29,088,778	29,162,777

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18524444	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18524444	Submitted genomic		NC_000006.12:g.291 21001_29195000del	GRCh38 (hg38)		NC_000006.12	Chr6	29,121,001	29,195,000
nssv18524444	Remapped	Perfect	NC_000006.11:g.290 88778_29162777del	GRCh37.p13	First Pass	NC_000006.11	Chr6	29,088,778	29,162,777

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18524444	0.002	512	252566

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