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

dbVar

Database of genomic structural variation

nsv7098847

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:146,101

Description:GRCh37/hg19 Xq24(chrX:118533367-118679467)x1 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: 402 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):119,399,404-119,545,504

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098847	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	119,399,404	119,545,504
nsv7098847	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	118,533,367	118,679,467

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18792773	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003221463.2, VCV002499162.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792773	Remapped	Perfect	NC_000023.11:g.(?_ 119399404)_(119545 504_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	119,399,404	119,545,504
nssv18792773	Submitted genomic		NC_000023.10:g.(?_ 118533367)_(118679 467_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	118,533,367	118,679,467

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
nssv18792773	GRCh37: NC_000023.10:g.(?_118533367)_(118679467_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV003221463.2, VCV002499162.3	1

No genotype data were submitted for this variant

You are here: NCBI