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dbVar

Database of genomic structural variation

nsv7137127

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:64,396

Description:GRCh37/hg19 16q24.3(chr16:89818649-89883044) 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: 530 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):89,752,241-89,816,636

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7137127	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	89,752,241	89,816,636
nsv7137127	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	89,818,649	89,883,044

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830809	copy number loss	Multiple	Multiple	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group A	Pathogenic	ClinVar	RCV003236735.1, VCV002506551.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18830809	Remapped	Perfect	NC_000016.10:g.(?_ 89752241)_(8981663 6_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	89,752,241	89,816,636
nssv18830809	Submitted genomic		NC_000016.9:g.(?_8 9818649)_(89883044 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	89,818,649	89,883,044

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
nssv18830809	GRCh37: NC_000016.9:g.(?_89818649)_(89883044_?)del	copy number loss	germline	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group A	Pathogenic	ClinVar	RCV003236735.1, VCV002506551.1

No genotype data were submitted for this variant

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