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dbVar

Database of genomic structural variation

nsv4654094

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:40,893

Description:nsv4185743 from gnomAD Structural Variants. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

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: 170 SVs from 40 studies. See in: genome view

Remapped(Score: Pass):67,549,862-67,590,754

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4654094	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	67,549,862	67,590,754
nsv4654094	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	67,590,000	67,658,200

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16179609	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16179609	Remapped	Pass	NC_000009.12:g.675 49862_67590754del	GRCh38.p12	First Pass	NC_000009.12	Chr9	67,549,862	67,590,754
nssv16179609	Submitted genomic		NC_000009.11:g.675 90000_67658200del	GRCh37 (hg19)		NC_000009.11	Chr9	67,590,000	67,658,200

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16179609	0.258	5589	21694

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