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dbVar

Database of genomic structural variation

nsv6120615

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:57

Description:nsv5531462 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: 458 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):696,678-696,734

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6120615	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	696,678	696,734
nsv6120615	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	746,678	746,734

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17964557	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17964557	Remapped	Perfect	NC_000016.10:g.696 678_696734dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	696,678	696,734
nssv17964557	Submitted genomic		NC_000016.9:g.7466 78_746734dup	GRCh37 (hg19)		NC_000016.9	Chr16	746,678	746,734

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)
nssv17964557	0.605	3572	5906

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