Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4716520

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:55,814

Description:NC_000016.9:g.(89825114_89828356)_(89877480_89
880927)del AND Fanconi anemia complementation group A
Publication(s):Alter et al. 2002, Scott et al. 2009

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: 510 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):89,758,706-89,814,519

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv4716520	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	89,758,706	89,761,948	89,811,072	89,814,519
nsv4716520	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	89,825,114	89,828,356	89,877,480	89,880,927

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16252212	deletion	Multiple	Multiple	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group A	Pathogenic	ClinVar	RCV001256334.1, VCV000974093.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv16252212	Remapped	Perfect	NC_000016.10:g.(89 758706_89761948)_( 89811072_89814519) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	89,758,706	89,761,948	89,811,072	89,814,519
nssv16252212	Submitted genomic		NC_000016.9:g.(898 25114_89828356)_(8 9877480_89880927)d el	GRCh37 (hg19)		NC_000016.9	Chr16	89,825,114	89,828,356	89,877,480	89,880,927

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
nssv16252212	GRCh37: NC_000016.9:g.(89825114_89828356)_(89877480_89880927)del	deletion	germline	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group A	Pathogenic	ClinVar	RCV001256334.1, VCV000974093.1

No genotype data were submitted for this variant

You are here: NCBI