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dbVar

Database of genomic structural variation

nsv5384967

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:314

Description:nsv4774915 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: 75 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):60,713,910-60,714,223

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5384967	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	60,713,910	60,714,223
nsv5384967	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	60,481,383	60,481,696

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16879513	alu deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16879513	Remapped	Perfect	NC_000011.10:g.607 13910_60714223del	GRCh38.p12	First Pass	NC_000011.10	Chr11	60,713,910	60,714,223
nssv16879513	Submitted genomic		NC_000011.9:g.6048 1383_60481696del	GRCh37 (hg19)		NC_000011.9	Chr11	60,481,383	60,481,696

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)
nssv16879513	0.065	1099	16834

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