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dbVar

Database of genomic structural variation

nsv6812630

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:2,065

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: 109 SVs from 22 studies. See in: genome view

Submitted genomic91,670,567-91,672,631

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6812630	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	91,670,567	91,672,631
nsv6812630	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	92,380,285	92,382,349

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18531420	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
nssv18531420	Submitted genomic		NC_000006.12:g.916 70567_91672631del	GRCh38 (hg38)		NC_000006.12	Chr6	91,670,567	91,672,631
nssv18531420	Remapped	Perfect	NC_000006.11:g.923 80285_92382349del	GRCh37.p13	First Pass	NC_000006.11	Chr6	92,380,285	92,382,349

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)
nssv18531420	0.001	377	274970

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