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dbVar

Database of genomic structural variation

nsv6115442

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:nsv5424656 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: 163 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):63,873,061-63,873,112

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6115442	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	63,873,061	63,873,112
nsv6115442	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	62,504,414	62,504,465

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17959890	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17959890	Remapped	Perfect	NC_000020.11:g.638 73061_63873112ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	63,873,061	63,873,112
nssv17959890	Submitted genomic		NC_000020.10:g.625 04414_62504465ins?	GRCh37 (hg19)		NC_000020.10	Chr20	62,504,414	62,504,465

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)
nssv17959890	0.036	220	6188

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