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dbVar

Database of genomic structural variation

nsv7098591

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:15,788

Description:NC_000023.10:g.(?_14861689)_(14877476_?)dup 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: 134 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):14,843,567-14,859,354

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098591	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	14,843,567	14,859,354
nsv7098591	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	14,861,689	14,877,476

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787319	duplication	Multiple	Multiple	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Uncertain significance	ClinVar	RCV003122308.2, VCV002423480.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787319	Remapped	Perfect	NC_000023.11:g.(?_ 14843567)_(1485935 4_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	14,843,567	14,859,354
nssv18787319	Submitted genomic		NC_000023.10:g.(?_ 14861689)_(1487747 6_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	14,861,689	14,877,476

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
nssv18787319	GRCh37: NC_000023.10:g.(?_14861689)_(14877476_?)dup	duplication	germline	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Uncertain significance	ClinVar	RCV003122308.2, VCV002423480.2

No genotype data were submitted for this variant

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