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dbVar

Database of genomic structural variation

nsv6641288

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:78,700

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: 1697 SVs from 99 studies. See in: genome view

Submitted genomic12,780,101-12,858,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6641288	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	12,780,101	12,858,800
nsv6641288	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	12,840,244	12,918,655

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18350649	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
nssv18350649	Submitted genomic		NC_000001.11:g.127 80101_12858800del	GRCh38 (hg38)		NC_000001.11	Chr1	12,780,101	12,858,800
nssv18350649	Remapped	Good	NC_000001.10:g.128 40244_12918655del	GRCh37.p13	First Pass	NC_000001.10	Chr1	12,840,244	12,918,655

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)
nssv18350649	0.027	7438	269482

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