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dbVar

Database of genomic structural variation

nsv7097700

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:359

Description:NC_000009.11:g.(?_136501494)_(136501852_?)dup AND Orthostatic hypotension 1
Publication(s):Garland 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: 156 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):133,636,372-133,636,730

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097700	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	133,636,372	133,636,730
nsv7097700	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	136,501,494	136,501,852

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791438	duplication	Multiple	Multiple	Dopamine Beta-Hydroxylase Deficiency; Dopamine beta-hydroxylase deficiency; Dopamine beta-hydroxylase deficiency; ORTHOSTATIC HYPOTENSION 1; ORTHYP1	Uncertain significance	ClinVar	RCV003105332.2, VCV002423395.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791438	Remapped	Perfect	NC_000009.12:g.(?_ 133636372)_(133636 730_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	133,636,372	133,636,730
nssv18791438	Submitted genomic		NC_000009.11:g.(?_ 136501494)_(136501 852_?)dup	GRCh37 (hg19)		NC_000009.11	Chr9	136,501,494	136,501,852

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
nssv18791438	GRCh37: NC_000009.11:g.(?_136501494)_(136501852_?)dup	duplication	germline	Dopamine Beta-Hydroxylase Deficiency; Dopamine beta-hydroxylase deficiency; Dopamine beta-hydroxylase deficiency; ORTHOSTATIC HYPOTENSION 1; ORTHYP1	Uncertain significance	ClinVar	RCV003105332.2, VCV002423395.4

No genotype data were submitted for this variant

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