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dbVar

Database of genomic structural variation

nsv6296741

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:1,640,677

Description:nsv5465523 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: 6953 SVs from 114 studies. See in: genome view

Remapped(Score: Perfect):177,669,324-179,310,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6296741	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	177,669,324	179,310,000
nsv6296741	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	177,096,325	178,737,001

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17671853	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17671853	Remapped	Perfect	NC_000005.10:g.177 669324_179310000du p	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,669,324	179,310,000
nssv17671853	Submitted genomic		NC_000005.9:g.1770 96325_178737001dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,096,325	178,737,001

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)
nssv17671853	0.014	91	6294

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