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dbVar

Database of genomic structural variation

nsv4681233

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:14,712

Description:NG_007406.1:g.(5249_8228)_(17155_19960)del AND Fanconi anemia complementation group N
Publication(s):Alter et al. 2002, Scott et al. 2009, Xia et al. 2007

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: 79 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):23,626,398-23,641,109

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
nsv4681233	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	23,626,398	23,629,203	23,638,130	23,641,109
nsv4681233	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	23,637,719	23,640,524	23,649,451	23,652,430

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212998	deletion	Multiple	Multiple	FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group N	Pathogenic	ClinVar	RCV001030111.2, VCV000830085.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv16212998	Remapped	Perfect	NC_000016.10:g.(23 626398_23629203)_( 23638130_23641109) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	23,626,398	23,629,203	23,638,130	23,641,109
nssv16212998	Submitted genomic		NC_000016.9:g.(236 37719_23640524)_(2 3649451_23652430)d el	GRCh37 (hg19)		NC_000016.9	Chr16	23,637,719	23,640,524	23,649,451	23,652,430

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
nssv16212998	GRCh37: NC_000016.9:g.(23637719_23640524)_(23649451_23652430)del	deletion	see ClinVar for details	FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group N	Pathogenic	ClinVar	RCV001030111.2, VCV000830085.2

No genotype data were submitted for this variant

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