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dbVar

Database of genomic structural variation

nsv4681801

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:158,288

Description:
See descriptions for individual calls in download files
Publication(s):Achermann et al. 2001, American Academy of Pediatrics Section on Cardiology and Cardiac Surgery et al. 2005, Birnkrant et al. 2007, Birnkrant et al. 2010, Birnkrant et al. 2018, Birnkrant et al. 2018, Birnkrant et al. 2018, Bushby et al. 2009, Bushby et al. 2009, Darras et al. 2000, Gloss et al. 2016, Moxley et al. 2005

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: 536 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):31,773,950-31,932,237

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681801	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,773,950	31,932,237
nsv4681801	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,792,067	31,950,354

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213390	duplication	Multiple	Multiple	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV001031588.6, VCV000830992.6
nssv16214415	deletion	Multiple	Multiple	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV001033199.4, VCV000832725.4
nssv17683531	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001663751.2, VCV001256409.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213390	Remapped	Perfect	NC_000023.11:g.(?_ 31773950)_(3193223 7_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,773,950	31,932,237
nssv16214415	Remapped	Perfect	NC_000023.11:g.(?_ 31773950)_(3193223 7_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,773,950	31,932,237
nssv17683531	Remapped	Perfect	NC_000023.11:g.(?_ 31773950)_(3193223 7_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,773,950	31,932,237
nssv16213390	Submitted genomic		NC_000023.10:g.(?_ 31792067)_(3195035 4_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	31,792,067	31,950,354
nssv16214415	Submitted genomic		NC_000023.10:g.(?_ 31792067)_(3195035 4_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	31,792,067	31,950,354
nssv17683531	Submitted genomic		NC_000023.10:g.(?_ 31792067)_(3195035 4_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	31,792,067	31,950,354

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
nssv16213390	GRCh37: NC_000023.10:g.(?_31792067)_(31950354_?)dup	duplication	germline	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV001031588.6, VCV000830992.6
nssv16214415	GRCh37: NC_000023.10:g.(?_31792067)_(31950354_?)del	deletion	germline	Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	Pathogenic	ClinVar	RCV001033199.4, VCV000832725.4
nssv17683531	GRCh37: NC_000023.10:g.(?_31792067)_(31950354_?)del	deletion	unknown	not provided	Pathogenic	ClinVar	RCV001663751.2, VCV001256409.2

No genotype data were submitted for this variant

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