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dbVar

Database of genomic structural variation

nsv5673029

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:29,811

Description:
See descriptions for individual calls in download files
Publication(s):Bird et al. 1998

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

Remapped(Score: Perfect):15,230,917-15,260,727

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673029	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	15,230,917	15,260,727
nsv5673029	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	15,134,234	15,164,044

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171396	duplication	Multiple	Multiple	Charcot-Marie-Tooth Neuropathy Type 1; Charcot-Marie-Tooth disease, type I	Pathogenic	ClinVar	RCV001382969.2, VCV001070721.2
nssv17171686	deletion	Multiple	Multiple	Charcot-Marie-Tooth Neuropathy Type 1; Charcot-Marie-Tooth disease, type I	Pathogenic	ClinVar	RCV001388024.2, VCV001074660.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171396	Remapped	Perfect	NC_000017.11:g.(?_ 15230917)_(1526072 7_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	15,230,917	15,260,727
nssv17171686	Remapped	Perfect	NC_000017.11:g.(?_ 15230917)_(1526072 7_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	15,230,917	15,260,727
nssv17171396	Submitted genomic		NC_000017.10:g.(?_ 15134234)_(1516404 4_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	15,134,234	15,164,044
nssv17171686	Submitted genomic		NC_000017.10:g.(?_ 15134234)_(1516404 4_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	15,134,234	15,164,044

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
nssv17171396	GRCh37: NC_000017.10:g.(?_15134234)_(15164044_?)dup	duplication	germline	Charcot-Marie-Tooth Neuropathy Type 1; Charcot-Marie-Tooth disease, type I	Pathogenic	ClinVar	RCV001382969.2, VCV001070721.2
nssv17171686	GRCh37: NC_000017.10:g.(?_15134234)_(15164044_?)del	deletion	germline	Charcot-Marie-Tooth Neuropathy Type 1; Charcot-Marie-Tooth disease, type I	Pathogenic	ClinVar	RCV001388024.2, VCV001074660.2

No genotype data were submitted for this variant

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