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dbVar

Database of genomic structural variation

nsv6117458

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:mobile element insertion
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:52

Description:nsv5424530 from Byrska-Bishop et. al 2021. 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: 101 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):34,779,431-34,779,482

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6117458	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	34,779,431	34,779,482
nsv6117458	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	35,248,637	35,248,688

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17963458	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17963458	Remapped	Perfect	NC_000014.9:g.3477 9431_34779482ins?	GRCh38.p12	First Pass	NC_000014.9	Chr14	34,779,431	34,779,482
nssv17963458	Submitted genomic		NC_000014.8:g.3524 8637_35248688ins?	GRCh37 (hg19)		NC_000014.8	Chr14	35,248,637	35,248,688

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)
nssv17963458	0.027	174	6404

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