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dbVar

Database of genomic structural variation

nsv5674153

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:4,977

Description:
See descriptions for individual calls in download files
Publication(s):Chinnery et al. 2000, Goldstein et al. 2003, Parikh et al. 2014, Parikh 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: 27 SVs from 2 studies. See in: genome view

Submitted genomic8,470-13,446

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv5674153	Submitted genomic	GRCh38 (hg38)	non-nuclear	NC_012920.1	ChrMT	8,470	13,446
nsv5674153	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_001807.4	ChrMT	8,470	13,446

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15129958	deletion	Multiple	Multiple	Mitochondrial disease; Mitochondrial diseases	Pathogenic	ClinVar	RCV000495046.2, VCV000430680.3
nssv16091685	deletion	Multiple	Multiple	KEARNS-SAYRE SYNDROME; KSS; Kearns Sayre syndrome; Kearns-Sayre syndrome; Mitochondrial DNA Deletion Syndromes	not provided	ClinVar	RCV000855712.2, VCV000430680.3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv15129958	Submitted genomic	NC_012920.1:g.8470 _13446del	GRCh38 (hg38)	NC_012920.1	ChrMT	8,470	13,446
nssv16091685	Submitted genomic	NC_012920.1:g.8470 _13446del	GRCh38 (hg38)	NC_012920.1	ChrMT	8,470	13,446
nssv15129958	Submitted genomic	NC_001807.4:g.8470 _13446del	GRCh37 (hg19)	NC_001807.4	ChrMT	8,470	13,446
nssv16091685	Submitted genomic	NC_001807.4:g.8470 _13446del	GRCh37 (hg19)	NC_001807.4	ChrMT	8,470	13,446

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15129958	GRCh37: NC_001807.4:g.8470_13446del, GRCh38: NC_012920.1:g.8470_13446del	deletion	germline	Mitochondrial disease; Mitochondrial diseases	Pathogenic	ClinVar	RCV000495046.2, VCV000430680.3
nssv16091685	GRCh37: NC_001807.4:g.8470_13446del, GRCh38: NC_012920.1:g.8470_13446del	deletion	germline	KEARNS-SAYRE SYNDROME; KSS; Kearns Sayre syndrome; Kearns-Sayre syndrome; Mitochondrial DNA Deletion Syndromes	not provided	ClinVar	RCV000855712.2, VCV000430680.3

No genotype data were submitted for this variant

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