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

dbVar

Database of genomic structural variation

nsv5672529

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:4,740

Description:NC_000010.10:g.(?_14946600)_(14951339_?)del AND Severe combined immunodeficiency due to DCLRE1C deficiency

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: 47 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):14,904,601-14,909,340

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5672529	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	14,904,601	14,909,340
nsv5672529	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	14,946,600	14,951,339

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172618	deletion	Multiple	Multiple	SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION; Severe combined immunodeficiency due to DCLRE1C deficiency; Severe combined immunodeficiency with sensitivity to ionizing radiation	Pathogenic	ClinVar	RCV001382013.5, VCV001070012.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172618	Remapped	Perfect	NC_000010.11:g.(?_ 14904601)_(1490934 0_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	14,904,601	14,909,340
nssv17172618	Submitted genomic		NC_000010.10:g.(?_ 14946600)_(1495133 9_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	14,946,600	14,951,339

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
nssv17172618	GRCh37: NC_000010.10:g.(?_14946600)_(14951339_?)del	deletion	germline	SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION; Severe combined immunodeficiency due to DCLRE1C deficiency; Severe combined immunodeficiency with sensitivity to ionizing radiation	Pathogenic	ClinVar	RCV001382013.5, VCV001070012.5

No genotype data were submitted for this variant

You are here: NCBI