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dbVar

Database of genomic structural variation

nsv6634481

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:6,446

Description:NC_000003.11:g.(?_10068070)_(10070406_10074515
)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: 133 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):10,026,386-10,032,831

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv6634481	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	10,026,386	10,028,722	10,032,831
nsv6634481	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	10,068,070	10,070,406	10,074,515

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326625	deletion	Multiple	Multiple	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Likely pathogenic	ClinVar	RCV002302579.1, VCV001722465.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv18326625	Remapped	Perfect	NC_000003.12:g.(?_ 10026386)_(1002872 2_10032831)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	10,026,386	10,028,722	10,032,831
nssv18326625	Submitted genomic		NC_000003.11:g.(?_ 10068070)_(1007040 6_10074515)del	GRCh37 (hg19)		NC_000003.11	Chr3	10,068,070	10,070,406	10,074,515

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
nssv18326625	GRCh37: NC_000003.11:g.(?_10068070)_(10070406_10074515)del	deletion	germline	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Likely pathogenic	ClinVar	RCV002302579.1, VCV001722465.1

No genotype data were submitted for this variant

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