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dbVar

Database of genomic structural variation

nsv5393887

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:mobile element deletion
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,614

Description:nsv4874434 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: 142 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):29,717,711-29,720,324

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5393887	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	29,717,711	29,720,324
nsv5393887	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	29,685,488	29,688,101

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16872574	sva deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16872574	Remapped	Perfect	NC_000006.12:g.297 17711_29720324del	GRCh38.p12	First Pass	NC_000006.12	Chr6	29,717,711	29,720,324
nssv16872574	Submitted genomic		NC_000006.11:g.296 85488_29688101del	GRCh37 (hg19)		NC_000006.11	Chr6	29,685,488	29,688,101

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)
nssv16872574	0.551	9269	16834

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