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dbVar

Database of genomic structural variation

nsv4681916

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:56,250

Description:NC_000016.10:g.(?_89752128)_(89808377_?)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: 455 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):89,752,128-89,808,377

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681916	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	89,752,128	89,808,377
nsv4681916	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	89,818,536	89,874,785

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214201	deletion	Multiple	Multiple	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Pathogenic	ClinVar	RCV001032776.1, VCV000832273.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214201	Remapped	Perfect	NC_000016.10:g.(?_ 89752128)_(8980837 7_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	89,752,128	89,808,377
nssv16214201	Submitted genomic		NC_000016.9:g.(?_8 9818536)_(89874785 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	89,818,536	89,874,785

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
nssv16214201	GRCh37: NC_000016.9:g.(?_89818536)_(89874785_?)del	deletion	germline	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Pathogenic	ClinVar	RCV001032776.1, VCV000832273.1

No genotype data were submitted for this variant

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