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dbVar

Database of genomic structural variation

nsv6634681

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:374,986

Description:NC_000023.10:g.(32663270_32715986)_(32867938_3
3038255)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: 1085 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):32,645,153-33,020,138

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
nsv6634681	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	32,645,153	32,697,869	32,849,821	33,020,138
nsv6634681	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	32,663,270	32,715,986	32,867,938	33,038,255

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326557	deletion	Multiple	Multiple	Dystrophinopathies; Dystrophinopathies	Pathogenic	ClinVar	RCV002308588.1, VCV001723312.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18326557	Remapped	Perfect	NC_000023.11:g.(32 645153_32697869)_( 32849821_33020138) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,645,153	32,697,869	32,849,821	33,020,138
nssv18326557	Submitted genomic		NC_000023.10:g.(32 663270_32715986)_( 32867938_33038255) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,663,270	32,715,986	32,867,938	33,038,255

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
nssv18326557	GRCh37: NC_000023.10:g.(32663270_32715986)_(32867938_33038255)del	deletion	germline	Dystrophinopathies; Dystrophinopathies	Pathogenic	ClinVar	RCV002308588.1, VCV001723312.1

No genotype data were submitted for this variant

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