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dbVar

Database of genomic structural variation

nsv4453974

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:235,568

Description:NC_000011.10:g.(?_3856251)_(4091818_?)del AND multiple conditions

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: 636 SVs from 66 studies. See in: genome view

Submitted genomic3,856,251-4,091,818

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv4453974	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000011.10	Chr11	3,856,251	4,091,818
nsv4453974	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000011.9	Chr11	3,877,481	4,113,048

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15770986	deletion	Multiple	Multiple	Combined immunodeficiency due to CRAC channel dysfunction; Combined immunodeficiency due to STIM1 deficiency; IMMUNODEFICIENCY 10; IMD10; Immune dysfunction with T-cell inactivation due to calcium entry defect 2; MYOPATHY, TUBULAR AGGREGATE, 1; TAM1; Myopathy with tubular aggregates; STORMORKEN SYNDROME; STRMK; See individual phenotypes in OMIM allelic variants; Stormorken syndrome; Stormorken-Sjaastad-Langslet syndrome	Pathogenic	ClinVar	RCV000823248.1, VCV000665042.6
nssv17173115	deletion	Multiple	Multiple	Combined immunodeficiency due to CRAC channel dysfunction; Combined immunodeficiency due to STIM1 deficiency; IMMUNODEFICIENCY 10; IMD10; Immune dysfunction with T-cell inactivation due to calcium entry defect 2; MYOPATHY, TUBULAR AGGREGATE, 1; TAM1; Myopathy with tubular aggregates; Myopathy, tubular aggregate; STORMORKEN SYNDROME; STRMK; See individual phenotypes in OMIM allelic variants; Stormorken syndrome; Stormorken-Sjaastad-Langslet syndrome	Pathogenic	ClinVar	RCV001388224.4, VCV000665042.6

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15770986	Submitted genomic	NC_000011.10:g.(?_ 3856251)_(4091818_ ?)del	GRCh38 (hg38)	NC_000011.10	Chr11	3,856,251	4,091,818
nssv17173115	Submitted genomic	NC_000011.10:g.(?_ 3856251)_(4091818_ ?)del	GRCh38 (hg38)	NC_000011.10	Chr11	3,856,251	4,091,818
nssv15770986	Submitted genomic	NC_000011.9:g.(?_3 877481)_(4113048_? )del	GRCh37 (hg19)	NC_000011.9	Chr11	3,877,481	4,113,048
nssv17173115	Submitted genomic	NC_000011.9:g.(?_3 877481)_(4113048_? )del	GRCh37 (hg19)	NC_000011.9	Chr11	3,877,481	4,113,048

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
nssv15770986	GRCh37: NC_000011.9:g.(?_3877481)_(4113048_?)del, GRCh38: NC_000011.10:g.(?_3856251)_(4091818_?)del	deletion	germline	Combined immunodeficiency due to CRAC channel dysfunction; Combined immunodeficiency due to STIM1 deficiency; IMMUNODEFICIENCY 10; IMD10; Immune dysfunction with T-cell inactivation due to calcium entry defect 2; MYOPATHY, TUBULAR AGGREGATE, 1; TAM1; Myopathy with tubular aggregates; STORMORKEN SYNDROME; STRMK; See individual phenotypes in OMIM allelic variants; Stormorken syndrome; Stormorken-Sjaastad-Langslet syndrome	Pathogenic	ClinVar	RCV000823248.1, VCV000665042.6
nssv17173115	GRCh37: NC_000011.9:g.(?_3877481)_(4113048_?)del, GRCh38: NC_000011.10:g.(?_3856251)_(4091818_?)del	deletion	germline	Combined immunodeficiency due to CRAC channel dysfunction; Combined immunodeficiency due to STIM1 deficiency; IMMUNODEFICIENCY 10; IMD10; Immune dysfunction with T-cell inactivation due to calcium entry defect 2; MYOPATHY, TUBULAR AGGREGATE, 1; TAM1; Myopathy with tubular aggregates; Myopathy, tubular aggregate; STORMORKEN SYNDROME; STRMK; See individual phenotypes in OMIM allelic variants; Stormorken syndrome; Stormorken-Sjaastad-Langslet syndrome	Pathogenic	ClinVar	RCV001388224.4, VCV000665042.6

No genotype data were submitted for this variant

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