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

dbVar

Database of genomic structural variation

nsv5393431

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:2,588

Description:nsv5033873 from Abel et. al 2020. 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: 186 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):125,387,619-125,390,206

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5393431	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	125,387,619	125,390,206
nsv5393431	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	125,708,765	125,711,352

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16874754	sva deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16874754	Remapped	Perfect	NC_000006.12:g.125 387619_125390206de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	125,387,619	125,390,206
nssv16874754	Submitted genomic		NC_000006.11:g.125 708765_125711352de l	GRCh37 (hg19)		NC_000006.11	Chr6	125,708,765	125,711,352

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)
nssv16874754	0.392	11451	29246

You are here: NCBI