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dbVar

Database of genomic structural variation

nsv7098987

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:13,448

Description:NC_000009.11:g.(97873920_97876910)_(97879673_9
7887367)del AND Fanconi anemia complementation group C
Publication(s):ACOG Committee on Genetics et al. 2009, Alter et al. 2002, Gross et al. 2008, Scott et al. 2009

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: 99 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):95,111,638-95,125,085

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv7098987	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	95,111,638	95,114,628	95,117,391	95,125,085
nsv7098987	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	97,873,920	97,876,910	97,879,673	97,887,367

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792849	deletion	Multiple	Multiple	FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group C	Likely pathogenic	ClinVar	RCV003226637.1, VCV002501040.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18792849	Remapped	Perfect	NC_000009.12:g.(95 111638_95114628)_( 95117391_95125085) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	95,111,638	95,114,628	95,117,391	95,125,085
nssv18792849	Submitted genomic		NC_000009.11:g.(97 873920_97876910)_( 97879673_97887367) del	GRCh37 (hg19)		NC_000009.11	Chr9	97,873,920	97,876,910	97,879,673	97,887,367

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
nssv18792849	GRCh37: NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del	deletion	germline	FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group C	Likely pathogenic	ClinVar	RCV003226637.1, VCV002501040.1

No genotype data were submitted for this variant

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