Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv7097689

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:309

Description:NC_000009.11:g.(?_131085138)_(131085446_?)dup AND Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Publication(s):Salviati 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: 70 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):128,322,859-128,323,167

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097689	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	128,322,859	128,323,167
nsv7097689	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	131,085,138	131,085,446

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791382	duplication	Multiple	Multiple	COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Primary Coenzyme Q10 Deficiency	Uncertain significance	ClinVar	RCV003119699.2, VCV002426261.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791382	Remapped	Perfect	NC_000009.12:g.(?_ 128322859)_(128323 167_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	128,322,859	128,323,167
nssv18791382	Submitted genomic		NC_000009.11:g.(?_ 131085138)_(131085 446_?)dup	GRCh37 (hg19)		NC_000009.11	Chr9	131,085,138	131,085,446

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
nssv18791382	GRCh37: NC_000009.11:g.(?_131085138)_(131085446_?)dup	duplication	germline	COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Primary Coenzyme Q10 Deficiency	Uncertain significance	ClinVar	RCV003119699.2, VCV002426261.2

No genotype data were submitted for this variant

You are here: NCBI