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dbVar

Database of genomic structural variation

nsv6122950

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:368

Description:nsv5513821 from Byrska-Bishop et. al 2021. 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: 109 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):67,399,361-67,399,728

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6122950	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	67,399,361	67,399,728
nsv6122950	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	67,866,078	67,866,445

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17963638	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17963638	Remapped	Perfect	NC_000014.9:g.6739 9361_67399728del	GRCh38.p12	First Pass	NC_000014.9	Chr14	67,399,361	67,399,728
nssv17963638	Submitted genomic		NC_000014.8:g.6786 6078_67866445del	GRCh37 (hg19)		NC_000014.8	Chr14	67,866,078	67,866,445

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)
nssv17963638	0.022	139	6404

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