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

dbVar

Database of genomic structural variation

nsv4681407

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:54,678

Description:NC_000016.10:g.(?_89761939)_(89816616_?)del 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: 507 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):89,761,939-89,816,616

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681407	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	89,761,939	89,816,616
nsv4681407	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	89,828,347	89,883,024

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212339	deletion	Multiple	Multiple	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Pathogenic	ClinVar	RCV001033121.4, VCV000832647.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212339	Remapped	Perfect	NC_000016.10:g.(?_ 89761939)_(8981661 6_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	89,761,939	89,816,616
nssv16212339	Submitted genomic		NC_000016.9:g.(?_8 9828347)_(89883024 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	89,828,347	89,883,024

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
nssv16212339	GRCh37: NC_000016.9:g.(?_89828347)_(89883024_?)del	deletion	germline	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia	Pathogenic	ClinVar	RCV001033121.4, VCV000832647.4

No genotype data were submitted for this variant

You are here: NCBI