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dbVar

Database of genomic structural variation

nsv4651254

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:37,862

Description:nsv4168415 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: 303 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):74,389,895-74,427,756

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4651254	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	74,389,895	74,427,756
nsv4651254	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	75,302,130	75,339,991

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16176697	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16176697	Remapped	Perfect	NC_000008.11:g.743 89895_74427756del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,389,895	74,427,756
nssv16176697	Submitted genomic		NC_000008.10:g.753 02130_75339991del	GRCh37 (hg19)		NC_000008.10	Chr8	75,302,130	75,339,991

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)
nssv16176697	0.011	247	21568

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