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dbVar

Database of genomic structural variation

nsv7148142

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:17,734

Description:GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0 AND Fanconi anemia complementation group A
Publication(s):Alter et al. 2002

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: 241 SVs from 39 studies. See in: genome view

Submitted genomic89,764,114-89,781,847

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7148142	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	89,764,114	89,781,847
nsv7148142	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	89,830,522	89,848,255

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18841991	copy number loss	Multiple	Multiple	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group A	Pathogenic	ClinVar	RCV003327649.1, VCV002579210.1	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18841991	Submitted genomic		NC_000016.10:g.897 64114_89781847del	GRCh38 (hg38)		NC_000016.10	Chr16	89,764,114	89,781,847
nssv18841991	Remapped	Perfect	NC_000016.9:g.8983 0522_89848255del	GRCh37.p13	First Pass	NC_000016.9	Chr16	89,830,522	89,848,255

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	Copy number
nssv18841991	GRCh38: NC_000016.10:g.89764114_89781847del	copy number loss	inherited	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group A	Pathogenic	ClinVar	RCV003327649.1, VCV002579210.1	0

No genotype data were submitted for this variant

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