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dbVar

Database of genomic structural variation

nsv5673418

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:102

Description:NC_000020.10:g.(?_43264848)_(43264949_?)del AND Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Publication(s):Hershfield et al. 2006

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

Remapped(Score: Perfect):44,636,207-44,636,308

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673418	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	44,636,207	44,636,308
nsv5673418	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	43,264,848	43,264,949

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172441	deletion	Multiple	Multiple	Adenosine Deaminase Deficiency; SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY; Server error < EMBL-EBI; Severe combined immunodeficiency due to ADA deficiency; Severe combined immunodeficiency due to adenosine deaminase deficiency	Pathogenic	ClinVar	RCV001380699.1, VCV001068992.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172441	Remapped	Perfect	NC_000020.11:g.(?_ 44636207)_(4463630 8_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	44,636,207	44,636,308
nssv17172441	Submitted genomic		NC_000020.10:g.(?_ 43264848)_(4326494 9_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	43,264,848	43,264,949

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
nssv17172441	GRCh37: NC_000020.10:g.(?_43264848)_(43264949_?)del	deletion	germline	Adenosine Deaminase Deficiency; SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY; Server error < EMBL-EBI; Severe combined immunodeficiency due to ADA deficiency; Severe combined immunodeficiency due to adenosine deaminase deficiency	Pathogenic	ClinVar	RCV001380699.1, VCV001068992.1

No genotype data were submitted for this variant

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