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dbVar

Database of genomic structural variation

nsv7096106

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:201,848

Description:NC_000002.11:g.(?_175427275)_(175629122_?)dup AND Wiskott-Aldrich syndrome 2

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: 544 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):174,562,547-174,764,394

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096106	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	174,562,547	174,764,394
nsv7096106	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	175,427,275	175,629,122

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787436	duplication	Multiple	Multiple	WISKOTT-ALDRICH SYNDROME 2; WAS2; Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome 2	Uncertain significance	ClinVar	RCV003122429.2, VCV002423598.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787436	Remapped	Perfect	NC_000002.12:g.(?_ 174562547)_(174764 394_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	174,562,547	174,764,394
nssv18787436	Submitted genomic		NC_000002.11:g.(?_ 175427275)_(175629 122_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	175,427,275	175,629,122

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
nssv18787436	GRCh37: NC_000002.11:g.(?_175427275)_(175629122_?)dup	duplication	germline	WISKOTT-ALDRICH SYNDROME 2; WAS2; Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome 2	Uncertain significance	ClinVar	RCV003122429.2, VCV002423598.3

No genotype data were submitted for this variant

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