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dbVar

Database of genomic structural variation

nsv5393660

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:6,166

Description:nsv4874046 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: 271 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):48,345,976-48,352,141

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5393660	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	48,345,976	48,352,141
nsv5393660	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	48,367,528	48,373,693

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16878929	line1 deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16878929	Remapped	Perfect	NC_000011.10:g.483 45976_48352141del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,345,976	48,352,141
nssv16878929	Submitted genomic		NC_000011.9:g.4836 7528_48373693del	GRCh37 (hg19)		NC_000011.9	Chr11	48,367,528	48,373,693

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)
nssv16878929	0.5	8417	16834

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