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dbVar

Database of genomic structural variation

nsv6309509

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:553,007

Description:
See descriptions for individual calls in download files
Publication(s):El-Hattab et al. 2009

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: 1562 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):47,943,371-48,496,377

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309509	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	47,943,371	48,496,377
nsv6309509	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	48,517,506	49,070,513

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971400	deletion	Multiple	Multiple	MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA); MTDPS5; Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	Pathogenic	ClinVar	RCV001953749.8, VCV001457430.31
nssv18788322	duplication	Multiple	Multiple	MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA); MTDPS5; Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	Uncertain significance	ClinVar	RCV003107763.2, VCV002424780.2
nssv18788323	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003107764.2, VCV002424780.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971400	Remapped	Perfect	NC_000013.11:g.(?_ 47943371)_(4849637 7_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	47,943,371	48,496,377
nssv18788322	Remapped	Perfect	NC_000013.11:g.(?_ 47943371)_(4849637 7_?)dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	47,943,371	48,496,377
nssv18788323	Remapped	Perfect	NC_000013.11:g.(?_ 47943371)_(4849637 7_?)dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	47,943,371	48,496,377
nssv17971400	Submitted genomic		NC_000013.10:g.(?_ 48517506)_(4907051 3_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	48,517,506	49,070,513
nssv18788322	Submitted genomic		NC_000013.10:g.(?_ 48517506)_(4907051 3_?)dup	GRCh37 (hg19)		NC_000013.10	Chr13	48,517,506	49,070,513
nssv18788323	Submitted genomic		NC_000013.10:g.(?_ 48517506)_(4907051 3_?)dup	GRCh37 (hg19)		NC_000013.10	Chr13	48,517,506	49,070,513

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
nssv17971400	GRCh37: NC_000013.10:g.(?_48517506)_(49070513_?)del	deletion	germline	MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA); MTDPS5; Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	Pathogenic	ClinVar	RCV001953749.8, VCV001457430.31
nssv18788322	GRCh37: NC_000013.10:g.(?_48517506)_(49070513_?)dup	duplication	germline	MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA); MTDPS5; Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	Uncertain significance	ClinVar	RCV003107763.2, VCV002424780.2
nssv18788323	GRCh37: NC_000013.10:g.(?_48517506)_(49070513_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003107764.2, VCV002424780.2

No genotype data were submitted for this variant

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