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

dbVar

Database of genomic structural variation

nsv7097217

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:176,751

Description:NC_000003.11:g.(?_9908818)_(10085568_?)del AND Candidiasis, familial, 9

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: 680 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):9,867,134-10,043,884

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097217	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	9,867,134	10,043,884
nsv7097217	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	9,908,818	10,085,568

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790104	deletion	Multiple	Multiple	CANDIDIASIS, FAMILIAL, 9; CANDF9; Candidiasis, familial, 9; Chronic mucocutaneous candidiasis	Uncertain significance	ClinVar	RCV003113760.2, VCV002427431.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790104	Remapped	Perfect	NC_000003.12:g.(?_ 9867134)_(10043884 _?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	9,867,134	10,043,884
nssv18790104	Submitted genomic		NC_000003.11:g.(?_ 9908818)_(10085568 _?)del	GRCh37 (hg19)		NC_000003.11	Chr3	9,908,818	10,085,568

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
nssv18790104	GRCh37: NC_000003.11:g.(?_9908818)_(10085568_?)del	deletion	germline	CANDIDIASIS, FAMILIAL, 9; CANDF9; Candidiasis, familial, 9; Chronic mucocutaneous candidiasis	Uncertain significance	ClinVar	RCV003113760.2, VCV002427431.2

No genotype data were submitted for this variant

You are here: NCBI