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dbVar

Database of genomic structural variation

nsv6295006

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:nsv5409678 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: 76 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):27,248,744-27,248,795

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295006	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	27,248,744	27,248,795
nsv6295006	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	27,290,235	27,290,286

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17662268	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17662268	Remapped	Perfect	NC_000003.12:g.272 48744_27248795ins?	GRCh38.p12	First Pass	NC_000003.12	Chr3	27,248,744	27,248,795
nssv17662268	Submitted genomic		NC_000003.11:g.272 90235_27290286ins?	GRCh37 (hg19)		NC_000003.11	Chr3	27,290,235	27,290,286

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)
nssv17662268	0.655	4195	6404

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