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dbVar

Database of genomic structural variation

nsv6116618

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:251

Description:nsv5429472 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: 728 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):1,284,432-1,284,682

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6116618	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	1,284,432	1,284,682
nsv6116618	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	1,403,325	1,403,575

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17960656	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17960656	Remapped	Perfect	NC_000023.11:g.128 4432_1284682dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	1,284,432	1,284,682
nssv17960656	Submitted genomic		NC_000023.10:g.140 3325_1403575dup	GRCh37 (hg19)		NC_000023.10	ChrX	1,403,325	1,403,575

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)
nssv17960656	0.47	2646	5626

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