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dbVar

Database of genomic structural variation

nsv5393726

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:2,592

Description:nsv5036777 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: 140 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):29,717,711-29,720,302

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5393726	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	29,717,711	29,720,302
nsv5393726	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	29,685,488	29,688,079

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16869150	sva deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16869150	Remapped	Perfect	NC_000006.12:g.297 17711_29720302del	GRCh38.p12	First Pass	NC_000006.12	Chr6	29,717,711	29,720,302
nssv16869150	Submitted genomic		NC_000006.11:g.296 85488_29688079del	GRCh37 (hg19)		NC_000006.11	Chr6	29,685,488	29,688,079

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)
nssv16869150	0.89	26033	29246

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