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dbVar

Database of genomic structural variation

nsv5386200

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:94,345

Description:nsv4828589 from Abel et. al 2020. 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: 2041 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):29,805,445-29,899,789

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5386200	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	29,805,445	29,899,789
nsv5386200	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	29,773,222	29,867,566

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16887536	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16887536	Remapped	Perfect	NC_000006.12:g.298 05445_29899789dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	29,805,445	29,899,789
nssv16887536	Submitted genomic		NC_000006.11:g.297 73222_29867566dup	GRCh37 (hg19)		NC_000006.11	Chr6	29,773,222	29,867,566

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)
nssv16887536	0.024	397	16834

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