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dbVar

Database of genomic structural variation

nsv5673556

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:1,054

Description:NC_000003.11:g.(?_10084233)_(10085286_?)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: 110 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):10,042,549-10,043,602

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673556	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	10,042,549	10,043,602
nsv5673556	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	10,084,233	10,085,286

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172307	deletion	Multiple	Multiple	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Likely pathogenic	ClinVar	RCV001379373.5, VCV001067968.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172307	Remapped	Perfect	NC_000003.12:g.(?_ 10042549)_(1004360 2_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	10,042,549	10,043,602
nssv17172307	Submitted genomic		NC_000003.11:g.(?_ 10084233)_(1008528 6_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	10,084,233	10,085,286

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
nssv17172307	GRCh37: NC_000003.11:g.(?_10084233)_(10085286_?)del	deletion	germline	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Likely pathogenic	ClinVar	RCV001379373.5, VCV001067968.5

No genotype data were submitted for this variant

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