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dbVar

Database of genomic structural variation

nsv4681960

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:156,656

Description:NC_000012.12:g.(?_8456112)_(8612767_?)del AND Hyper-IgM syndrome type 2

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: 488 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):8,456,112-8,612,767

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681960	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	8,456,112	8,612,767
nsv4681960	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	8,608,708	8,765,363

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214596	deletion	Multiple	Multiple	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2; Immunodeficiency with hyper IgM type 2	Pathogenic	ClinVar	RCV001031871.1, VCV000831306.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214596	Remapped	Perfect	NC_000012.12:g.(?_ 8456112)_(8612767_ ?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	8,456,112	8,612,767
nssv16214596	Submitted genomic		NC_000012.11:g.(?_ 8608708)_(8765363_ ?)del	GRCh37 (hg19)		NC_000012.11	Chr12	8,608,708	8,765,363

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
nssv16214596	GRCh37: NC_000012.11:g.(?_8608708)_(8765363_?)del	deletion	germline	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2; Immunodeficiency with hyper IgM type 2	Pathogenic	ClinVar	RCV001031871.1, VCV000831306.1

No genotype data were submitted for this variant

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