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

dbVar

Database of genomic structural variation

nsv5383104

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:3,538

Description:nsv4780014 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: 288 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):110,695,374-110,698,911

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5383104	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	110,695,374	110,698,911
nsv5383104	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	109,938,602	109,942,139

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16874394	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16874394	Remapped	Perfect	NC_000023.11:g.110 695374_110698911de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	110,695,374	110,698,911
nssv16874394	Submitted genomic		NC_000023.10:g.109 938602_109942139de l	GRCh37 (hg19)		NC_000023.10	ChrX	109,938,602	109,942,139

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)
nssv16874394	0.011	179	16834

You are here: NCBI