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dbVar

Database of genomic structural variation

nsv6310233

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:1,284

Description:
See descriptions for individual calls in download files
Publication(s):Ackerman et al. 2011, Alders et al. 2003, Burgunder et al. 2010, Veerapandiyan et al. 2004

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: 83 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):70,175,040-70,176,323

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310233	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	70,175,040	70,176,323
nsv6310233	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	68,171,181	68,172,464

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973354	duplication	Multiple	Multiple	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Tawil syndrome; Andersen-Tawil Syndrome; Andersen-Tawil syndrome; Familial short QT syndrome; SHORT QT SYNDROME 3; SQT3; Short QT syndrome 3	Uncertain significance	ClinVar	RCV002014368.2, VCV001511120.2
nssv18791475	deletion	Multiple	Multiple	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Tawil syndrome; Andersen-Tawil Syndrome; Andersen-Tawil syndrome; Familial short QT syndrome; SHORT QT SYNDROME 3; SQT3; Short QT syndrome 3	Uncertain significance	ClinVar	RCV003105370.2, VCV002423433.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973354	Remapped	Perfect	NC_000017.11:g.(?_ 70175040)_(7017632 3_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	70,175,040	70,176,323
nssv18791475	Remapped	Perfect	NC_000017.11:g.(?_ 70175040)_(7017632 3_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	70,175,040	70,176,323
nssv17973354	Submitted genomic		NC_000017.10:g.(?_ 68171181)_(6817246 4_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	68,171,181	68,172,464
nssv18791475	Submitted genomic		NC_000017.10:g.(?_ 68171181)_(6817246 4_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	68,171,181	68,172,464

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
nssv17973354	GRCh37: NC_000017.10:g.(?_68171181)_(68172464_?)dup	duplication	germline	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Tawil syndrome; Andersen-Tawil Syndrome; Andersen-Tawil syndrome; Familial short QT syndrome; SHORT QT SYNDROME 3; SQT3; Short QT syndrome 3	Uncertain significance	ClinVar	RCV002014368.2, VCV001511120.2
nssv18791475	GRCh37: NC_000017.10:g.(?_68171181)_(68172464_?)del	deletion	germline	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Tawil syndrome; Andersen-Tawil Syndrome; Andersen-Tawil syndrome; Familial short QT syndrome; SHORT QT SYNDROME 3; SQT3; Short QT syndrome 3	Uncertain significance	ClinVar	RCV003105370.2, VCV002423433.2

No genotype data were submitted for this variant

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