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dbVar

Database of genomic structural variation

nsv6308837

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:nsv5563196 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: 89 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):27,253,711-27,253,762

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6308837	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	27,253,711	27,253,762
nsv6308837	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	27,580,202	27,580,253

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17659941	sva insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17659941	Remapped	Perfect	NC_000001.11:g.272 53711_27253762ins?	GRCh38.p12	First Pass	NC_000001.11	Chr1	27,253,711	27,253,762
nssv17659941	Submitted genomic		NC_000001.10:g.275 80202_27580253ins?	GRCh37 (hg19)		NC_000001.10	Chr1	27,580,202	27,580,253

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)
nssv17659941	0.023	146	6404

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