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dbVar

Database of genomic structural variation

nsv5383724

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:359

Description:nsv4785920 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: 117 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):78,361,901-78,362,259

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5383724	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	78,361,901	78,362,259
nsv5383724	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	78,828,244	78,828,602

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16884454	alu deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16884454	Remapped	Perfect	NC_000014.9:g.7836 1901_78362259del	GRCh38.p12	First Pass	NC_000014.9	Chr14	78,361,901	78,362,259
nssv16884454	Submitted genomic		NC_000014.8:g.7882 8244_78828602del	GRCh37 (hg19)		NC_000014.8	Chr14	78,828,244	78,828,602

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)
nssv16884454	0.983	16542	16834

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