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dbVar

Database of genomic structural variation

nsv7093818

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:9,305

Description:NC_000011.9:g.(118215194_118219741)_(118224498
_?)del AND Severe combined immunodeficiency disease

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: 81 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):118,344,479-118,353,783

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop
nsv7093818	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	118,344,479	118,349,026	118,353,783
nsv7093818	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	118,215,194	118,219,741	118,224,498

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788167	deletion	Multiple	Multiple	Severe Combined Immunodeficiency; Severe combined immunodeficiency; Severe combined immunodeficiency disease	Likely pathogenic	ClinVar	RCV003123567.2, VCV002429328.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop
nssv18788167	Remapped	Perfect	NC_000011.10:g.(11 8344479_118349026) _(118353783_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	118,344,479	118,349,026	118,353,783
nssv18788167	Submitted genomic		NC_000011.9:g.(118 215194_118219741)_ (118224498_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	118,215,194	118,219,741	118,224,498

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
nssv18788167	GRCh37: NC_000011.9:g.(118215194_118219741)_(118224498_?)del	deletion	germline	Severe Combined Immunodeficiency; Severe combined immunodeficiency; Severe combined immunodeficiency disease	Likely pathogenic	ClinVar	RCV003123567.2, VCV002429328.2

No genotype data were submitted for this variant

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