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

dbVar

Database of genomic structural variation

nsv7097308

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:11,910

Description:NC_000006.11:g.(?_111901380)_(111913289_?)dup AND Candidiasis, familial, 8

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: 101 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):111,580,177-111,592,086

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097308	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	111,580,177	111,592,086
nsv7097308	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	111,901,380	111,913,289

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790023	duplication	Multiple	Multiple	CANDIDIASIS, FAMILIAL, 8; CANDF8; Candidiasis, familial, 8; Chronic mucocutaneous candidiasis	Uncertain significance	ClinVar	RCV003113678.2, VCV002427349.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790023	Remapped	Perfect	NC_000006.12:g.(?_ 111580177)_(111592 086_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	111,580,177	111,592,086
nssv18790023	Submitted genomic		NC_000006.11:g.(?_ 111901380)_(111913 289_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	111,901,380	111,913,289

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
nssv18790023	GRCh37: NC_000006.11:g.(?_111901380)_(111913289_?)dup	duplication	germline	CANDIDIASIS, FAMILIAL, 8; CANDF8; Candidiasis, familial, 8; Chronic mucocutaneous candidiasis	Uncertain significance	ClinVar	RCV003113678.2, VCV002427349.2

No genotype data were submitted for this variant

You are here: NCBI