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dbVar

Database of genomic structural variation

nsv5672854

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:20,130

Description:NC_000016.9:g.(?_89804999)_(89825128_?)del AND Fanconi anemia
Publication(s):ACOG Committee on Genetics et al. 2009, Alter et al. 2002, Gross et al. 2008, No authors et al. 2021, No authors et al. 2021, No authors et al. 2021

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: 233 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):89,738,591-89,758,720

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5672854	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	89,738,591	89,758,720
nsv5672854	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	89,804,999	89,825,128

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171726	deletion	Multiple	Multiple	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Pathogenic	ClinVar	RCV001388934.1, VCV001075371.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171726	Remapped	Perfect	NC_000016.10:g.(?_ 89738591)_(8975872 0_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	89,738,591	89,758,720
nssv17171726	Submitted genomic		NC_000016.9:g.(?_8 9804999)_(89825128 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	89,804,999	89,825,128

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
nssv17171726	GRCh37: NC_000016.9:g.(?_89804999)_(89825128_?)del	deletion	germline	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Pathogenic	ClinVar	RCV001388934.1, VCV001075371.1

No genotype data were submitted for this variant

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