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dbVar

Database of genomic structural variation

nsv6295013

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:nsv5410596 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: 135 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):112,556,141-112,556,192

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295013	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	112,556,141	112,556,192
nsv6295013	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	113,477,297	113,477,348

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17667390	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17667390	Remapped	Perfect	NC_000004.12:g.112 556141_112556192in s?	GRCh38.p12	First Pass	NC_000004.12	Chr4	112,556,141	112,556,192
nssv17667390	Submitted genomic		NC_000004.11:g.113 477297_113477348in s?	GRCh37 (hg19)		NC_000004.11	Chr4	113,477,297	113,477,348

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)
nssv17667390	0.665	4256	6404

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