Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6308170

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:mobile element deletion
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:7,932

Description:nsv6147115 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: 134 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):63,528,073-63,536,004

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6308170	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	63,528,073	63,536,004
nsv6308170	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	63,755,207	63,763,138

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17661041	mobile element deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17661041	Remapped	Perfect	NC_000002.12:g.635 28073_63536004del	GRCh38.p12	First Pass	NC_000002.12	Chr2	63,528,073	63,536,004
nssv17661041	Submitted genomic		NC_000002.11:g.637 55207_63763138del	GRCh37 (hg19)		NC_000002.11	Chr2	63,755,207	63,763,138

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)
nssv17661041	0.395	2532	6404

You are here: NCBI