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dbVar

Database of genomic structural variation

nsv7097698

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:205

Description:NC_000009.11:g.(?_136223104)_(136223329_?)dup AND Leigh syndrome
Publication(s):Chinnery et al. 2000, Goldstein et al. 2003, Parikh et al. 2017, Rahman et al. 2015, Thorburn et al. 2003

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: 115 SVs from 21 studies. See in: genome view

Remapped(Score: Pass):133,356,249-133,356,453

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097698	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	133,356,249	133,356,453
nsv7097698	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_009646201.1	Chr9\|NW_00 9646201.1	182,343	182,547
nsv7097698	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	136,223,104	136,223,329

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789585	duplication	Multiple	Multiple	LEIGH SYNDROME; LS; Leigh syndrome; Leigh syndrome	Uncertain significance	ClinVar	RCV003113228.2, VCV002424646.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789585	Remapped	Pass	NW_009646201.1:g.( ?_182343)_(182547_ ?)dup	GRCh38.p12	Second Pass	NW_009646201.1	Chr9\|NW_00 9646201.1	182,343	182,547
nssv18789585	Remapped	Pass	NC_000009.12:g.(?_ 133356249)_(133356 453_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	133,356,249	133,356,453
nssv18789585	Submitted genomic		NC_000009.11:g.(?_ 136223104)_(136223 329_?)dup	GRCh37 (hg19)		NC_000009.11	Chr9	136,223,104	136,223,329

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
nssv18789585	GRCh37: NC_000009.11:g.(?_136223104)_(136223329_?)dup	duplication	germline	LEIGH SYNDROME; LS; Leigh syndrome; Leigh syndrome	Uncertain significance	ClinVar	RCV003113228.2, VCV002424646.2

No genotype data were submitted for this variant

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