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dbVar

Database of genomic structural variation

nsv5381623

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:52

Description:NC_000006.11:g.(?_33269517)_(33269568_?)del AND MHC class I deficiency
Publication(s):Richards et al. 2015

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: 85 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):33,301,740-33,301,791

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381623	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	33,301,740	33,301,791
nsv5381623	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	33,269,517	33,269,568

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866575	deletion	Multiple	Multiple	BARE LYMPHOCYTE SYNDROME, TYPE I; Bare lymphocyte syndrome type 1; Immunodeficiency by defective expression of HLA class 1; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001314003.3, VCV001015178.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866575	Remapped	Perfect	NC_000006.12:g.(?_ 33301740)_(3330179 1_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	33,301,740	33,301,791
nssv16866575	Submitted genomic		NC_000006.11:g.(?_ 33269517)_(3326956 8_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	33,269,517	33,269,568

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
nssv16866575	GRCh37: NC_000006.11:g.(?_33269517)_(33269568_?)del	deletion	germline	BARE LYMPHOCYTE SYNDROME, TYPE I; Bare lymphocyte syndrome type 1; Immunodeficiency by defective expression of HLA class 1; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001314003.3, VCV001015178.3

No genotype data were submitted for this variant

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