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dbVar

Database of genomic structural variation

nsv5393772

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:6,099

Description:nsv5038147 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: 233 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):128,452,922-128,459,020

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5393772	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	128,452,922	128,459,020
nsv5393772	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	129,465,168	129,471,266

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16872258	line1 deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16872258	Remapped	Perfect	NC_000008.11:g.128 452922_128459020de l	GRCh38.p12	First Pass	NC_000008.11	Chr8	128,452,922	128,459,020
nssv16872258	Submitted genomic		NC_000008.10:g.129 465168_129471266de l	GRCh37 (hg19)		NC_000008.10	Chr8	129,465,168	129,471,266

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)
nssv16872258	0.975	28503	29246

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