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dbVar

Database of genomic structural variation

nsv7094312

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:2,186,052

Description:
See descriptions for individual calls in download files

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: 7118 SVs from 101 studies. See in: genome view

Remapped(Score: Perfect):88,836,198-91,022,249

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094312	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	88,836,198	91,022,249
nsv7094312	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	89,379,429	91,565,479

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789006	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003111026.2, VCV002422891.3
nssv18789007	duplication	Multiple	Multiple	D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2; D-2-hydroxyglutaric aciduria; D-2-hydroxyglutaric aciduria 2	Uncertain significance	ClinVar	RCV003111027.2, VCV002422891.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789006	Remapped	Perfect	NC_000015.10:g.(?_ 88836198)_(9102224 9_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	88,836,198	91,022,249
nssv18789007	Remapped	Perfect	NC_000015.10:g.(?_ 88836198)_(9102224 9_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	88,836,198	91,022,249
nssv18789006	Submitted genomic		NC_000015.9:g.(?_8 9379429)_(91565479 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	89,379,429	91,565,479
nssv18789007	Submitted genomic		NC_000015.9:g.(?_8 9379429)_(91565479 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	89,379,429	91,565,479

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
nssv18789006	GRCh37: NC_000015.9:g.(?_89379429)_(91565479_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003111026.2, VCV002422891.3
nssv18789007	GRCh37: NC_000015.9:g.(?_89379429)_(91565479_?)dup	duplication	germline	D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2; D-2-hydroxyglutaric aciduria; D-2-hydroxyglutaric aciduria 2	Uncertain significance	ClinVar	RCV003111027.2, VCV002422891.3

No genotype data were submitted for this variant

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