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dbVar

Database of genomic structural variation

nsv6127404

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:32,001

Description:nsv5515900 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: 1073 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):40,832,874-40,864,874

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6127404	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	40,832,874	40,864,874
nsv6127404	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	41,338,779	41,370,779

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17959266	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17959266	Remapped	Perfect	NC_000019.10:g.408 32874_40864874del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,832,874	40,864,874
nssv17959266	Submitted genomic		NC_000019.9:g.4133 8779_41370779del	GRCh37 (hg19)		NC_000019.9	Chr19	41,338,779	41,370,779

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)
nssv17959266	0.018	109	6142

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