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

dbVar

Database of genomic structural variation

nsv4769278

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:312,937

Description:GRCh37/hg19 Xp21.1(chrX:31593373-31906309)x0 AND not provided

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: 710 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):31,575,256-31,888,192

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4769278	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,575,256	31,888,192
nsv4769278	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,593,373	31,906,309

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16297077	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001270671.4, VCV000988941.4	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16297077	Remapped	Perfect	NC_000023.11:g.315 75256_31888192del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,575,256	31,888,192
nssv16297077	Submitted genomic		NC_000023.10:g.315 93373_31906309del	GRCh37 (hg19)		NC_000023.10	ChrX	31,593,373	31,906,309

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16297077	GRCh37: NC_000023.10:g.31593373_31906309del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001270671.4, VCV000988941.4	0

No genotype data were submitted for this variant

You are here: NCBI