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dbVar

Database of genomic structural variation

nsv6130189

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:16

Description:nsv5556753 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: 88 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):11,746,551-11,746,566

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130189	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	11,746,551	11,746,566
nsv6130189	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	11,857,366	11,857,381

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17968337	mobile element insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17968337	Remapped	Perfect	NC_000019.10:g.117 46551_11746566ins?	GRCh38.p12	First Pass	NC_000019.10	Chr19	11,746,551	11,746,566
nssv17968337	Submitted genomic		NC_000019.9:g.1185 7366_11857381ins?	GRCh37 (hg19)		NC_000019.9	Chr19	11,857,366	11,857,381

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)
nssv17968337	0.085	506	5950

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