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dbVar

Database of genomic structural variation

nsv6293428

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:nsv5396194 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: 105 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):64,982,228-64,982,279

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6293428	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	64,982,228	64,982,279
nsv6293428	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	64,442,606	64,442,657

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17651329	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17651329	Remapped	Perfect	NC_000007.14:g.649 82228_64982279ins?	GRCh38.p12	First Pass	NC_000007.14	Chr7	64,982,228	64,982,279
nssv17651329	Submitted genomic		NC_000007.13:g.644 42606_64442657ins?	GRCh37 (hg19)		NC_000007.13	Chr7	64,442,606	64,442,657

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)
nssv17651329	0.126	801	6368

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