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dbVar

Database of genomic structural variation

nsv7095898

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:2,415,420

Description:NC_000020.10:g.(?_42223339)_(44638757_?)del AND Combined immunodeficiency due to STK4 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: 7538 SVs from 108 studies. See in: genome view

Remapped(Score: Perfect):43,594,699-46,010,118

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095898	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	43,594,699	46,010,118
nsv7095898	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	42,223,339	44,638,757

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788532	deletion	Multiple	Multiple	Combined immunodeficiency due to STK4 deficiency; T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS; TIIAC; T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations	Pathogenic	ClinVar	RCV003109483.2, VCV002425559.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788532	Remapped	Perfect	NC_000020.11:g.(?_ 43594699)_(4601011 8_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	43,594,699	46,010,118
nssv18788532	Submitted genomic		NC_000020.10:g.(?_ 42223339)_(4463875 7_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	42,223,339	44,638,757

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
nssv18788532	GRCh37: NC_000020.10:g.(?_42223339)_(44638757_?)del	deletion	germline	Combined immunodeficiency due to STK4 deficiency; T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS; TIIAC; T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations	Pathogenic	ClinVar	RCV003109483.2, VCV002425559.2

No genotype data were submitted for this variant

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