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dbVar

Database of genomic structural variation

nsv6295001

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:nsv5398102 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: 107 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):72,799,582-72,799,633

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295001	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	72,799,582	72,799,633
nsv6295001	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	72,848,733	72,848,784

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17672003	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17672003	Remapped	Perfect	NC_000003.12:g.727 99582_72799633ins?	GRCh38.p12	First Pass	NC_000003.12	Chr3	72,799,582	72,799,633
nssv17672003	Submitted genomic		NC_000003.11:g.728 48733_72848784ins?	GRCh37 (hg19)		NC_000003.11	Chr3	72,848,733	72,848,784

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)
nssv17672003	0.61	3862	6336

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