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

dbVar

Database of genomic structural variation

nsv6634673

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:367,734

Description:NC_000023.10:g.(31525571_31645789)_(31854937_3
1893304)del AND Qualitative or quantitative defects of dystrophin
Publication(s):Darras et al. 2000

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: 808 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):31,507,454-31,875,187

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6634673	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,507,454	31,627,672	31,836,820	31,875,187
nsv6634673	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,525,571	31,645,789	31,854,937	31,893,304

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326567	deletion	Multiple	Multiple	Dystrophinopathies; Dystrophinopathies	Pathogenic	ClinVar	RCV002308530.1, VCV001723254.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18326567	Remapped	Perfect	NC_000023.11:g.(31 507454_31627672)_( 31836820_31875187) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,507,454	31,627,672	31,836,820	31,875,187
nssv18326567	Submitted genomic		NC_000023.10:g.(31 525571_31645789)_( 31854937_31893304) del	GRCh37 (hg19)		NC_000023.10	ChrX	31,525,571	31,645,789	31,854,937	31,893,304

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
nssv18326567	GRCh37: NC_000023.10:g.(31525571_31645789)_(31854937_31893304)del	deletion	germline	Dystrophinopathies; Dystrophinopathies	Pathogenic	ClinVar	RCV002308530.1, VCV001723254.1

No genotype data were submitted for this variant

You are here: NCBI