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

dbVar

Database of genomic structural variation

nsv6307624

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:8,652

Description:nsv6147428 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: 162 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):93,480,404-93,489,055

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6307624	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	93,480,404	93,489,055
nsv6307624	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	94,492,632	94,501,283

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17653148	mobile element deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17653148	Remapped	Perfect	NC_000008.11:g.934 80404_93489055del	GRCh38.p12	First Pass	NC_000008.11	Chr8	93,480,404	93,489,055
nssv17653148	Submitted genomic		NC_000008.10:g.944 92632_94501283del	GRCh37 (hg19)		NC_000008.10	Chr8	94,492,632	94,501,283

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)
nssv17653148	0.026	167	6404

You are here: NCBI