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dbVar

Database of genomic structural variation

nsv6128180

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:3,314

Description:nsv5531191 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: 258 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):80,021,655-80,024,968

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6128180	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	80,021,655	80,024,968
nsv6128180	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	77,995,454	77,998,767

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958242	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958242	Remapped	Perfect	NC_000017.11:g.800 21655_80024968dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	80,021,655	80,024,968
nssv17958242	Submitted genomic		NC_000017.10:g.779 95454_77998767dup	GRCh37 (hg19)		NC_000017.10	Chr17	77,995,454	77,998,767

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)
nssv17958242	0.447	1908	4270

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