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dbVar

Database of genomic structural variation

nsv4140789

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,563

Publication(s):gnomAD_Structural_Variants

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: 39 SVs from 6 studies. See in: genome view

Remapped(Score: Perfect):89,362,349-89,364,911

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4140789	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	89,362,349	89,364,911
nsv4140789	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000006.11	Chr6	90,072,068	90,074,630

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15913263	deletion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15913263	Remapped	Perfect	NC_000006.12:g.893 62349_89364911del	GRCh38.p12	First Pass	NC_000006.12	Chr6	89,362,349	89,364,911
nssv15913263	Submitted genomic		NC_000006.11:g.900 72068_90074630del	GRCh37.p13		NC_000006.11	Chr6	90,072,068	90,074,630

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)
nssv15913263	4.6e-005	1	21694

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