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dbVar

Database of genomic structural variation

nsv5673550

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:23,178

Description:
See descriptions for individual calls in download files
Publication(s):Marshall et al. 2011, Paisey et al. 2003, Styne et al. 2017

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: 109 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):73,550,257-73,573,434

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673550	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	73,550,257	73,573,434
nsv5673550	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	73,777,384	73,800,561

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172667	deletion	Multiple	Multiple	ALSTROM SYNDROME; ALMS; Alstrom syndrome; Alström Syndrome; Alström syndrome	Pathogenic	ClinVar	RCV001382350.2, VCV001070276.2
nssv18786669	duplication	Multiple	Multiple	ALSTROM SYNDROME; ALMS; Alstrom syndrome; Alström Syndrome; Alström syndrome	Likely pathogenic	ClinVar	RCV003119514.2, VCV002426076.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172667	Remapped	Perfect	NC_000002.12:g.(?_ 73550257)_(7357343 4_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	73,550,257	73,573,434
nssv18786669	Remapped	Perfect	NC_000002.12:g.(?_ 73550257)_(7357343 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	73,550,257	73,573,434
nssv17172667	Submitted genomic		NC_000002.11:g.(?_ 73777384)_(7380056 1_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	73,777,384	73,800,561
nssv18786669	Submitted genomic		NC_000002.11:g.(?_ 73777384)_(7380056 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	73,777,384	73,800,561

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
nssv17172667	GRCh37: NC_000002.11:g.(?_73777384)_(73800561_?)del	deletion	germline	ALSTROM SYNDROME; ALMS; Alstrom syndrome; Alström Syndrome; Alström syndrome	Pathogenic	ClinVar	RCV001382350.2, VCV001070276.2
nssv18786669	GRCh37: NC_000002.11:g.(?_73777384)_(73800561_?)dup	duplication	germline	ALSTROM SYNDROME; ALMS; Alstrom syndrome; Alström Syndrome; Alström syndrome	Likely pathogenic	ClinVar	RCV003119514.2, VCV002426076.2

No genotype data were submitted for this variant

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