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dbVar

Database of genomic structural variation

nsv6292007

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:nsv5412316 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: 110 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):65,010,482-65,010,533

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6292007	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	65,010,482	65,010,533
nsv6292007	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	65,237,616	65,237,667

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17662435	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17662435	Remapped	Perfect	NC_000002.12:g.650 10482_65010533ins?	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,010,482	65,010,533
nssv17662435	Submitted genomic		NC_000002.11:g.652 37616_65237667ins?	GRCh37 (hg19)		NC_000002.11	Chr2	65,237,616	65,237,667

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)
nssv17662435	0.037	240	6402

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