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dbVar

Database of genomic structural variation

nsv6121358

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:502

Description:nsv5510644 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: 101 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):49,821,001-49,821,502

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6121358	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	49,821,001	49,821,502
nsv6121358	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	50,287,719	50,288,220

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17963540	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17963540	Remapped	Perfect	NC_000014.9:g.4982 1001_49821502del	GRCh38.p12	First Pass	NC_000014.9	Chr14	49,821,001	49,821,502
nssv17963540	Submitted genomic		NC_000014.8:g.5028 7719_50288220del	GRCh37 (hg19)		NC_000014.8	Chr14	50,287,719	50,288,220

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)
nssv17963540	0.779	4989	6404

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