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dbVar

Database of genomic structural variation

nsv6121931

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:703

Description:nsv5507803 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: 104 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):123,973,181-123,973,883

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6121931	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	123,973,181	123,973,883
nsv6121931	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	124,457,728	124,458,430

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17962466	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17962466	Remapped	Perfect	NC_000012.12:g.123 973181_123973883de l	GRCh38.p12	First Pass	NC_000012.12	Chr12	123,973,181	123,973,883
nssv17962466	Submitted genomic		NC_000012.11:g.124 457728_124458430de l	GRCh37 (hg19)		NC_000012.11	Chr12	124,457,728	124,458,430

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)
nssv17962466	0.057	364	6404

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