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dbVar

Database of genomic structural variation

nsv6307590

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:11,487

Description:nsv6145997 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: 273 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):29,457,000-29,468,486

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6307590	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	29,457,000	29,468,486
nsv6307590	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	29,468,321	29,479,807

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17966705	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17966705	Remapped	Perfect	NC_000016.10:g.294 57000_29468486dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	29,457,000	29,468,486
nssv17966705	Submitted genomic		NC_000016.9:g.2946 8321_29479807dup	GRCh37 (hg19)		NC_000016.9	Chr16	29,468,321	29,479,807

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)
nssv17966705	0.581	3377	5812

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