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dbVar

Database of genomic structural variation

nsv6309268

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:224

Description:NC_000012.11:g.(?_44176090)_(44176313_?)del AND Immunodeficiency 67

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: 73 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):43,782,287-43,782,510

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309268	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	43,782,287	43,782,510
nsv6309268	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	44,176,090	44,176,313

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17972029	deletion	Multiple	Multiple	IRAK4 DEFICIENCY; IRAK4 deficiency; Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	Pathogenic	ClinVar	RCV001963193.5, VCV001459926.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17972029	Remapped	Perfect	NC_000012.12:g.(?_ 43782287)_(4378251 0_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	43,782,287	43,782,510
nssv17972029	Submitted genomic		NC_000012.11:g.(?_ 44176090)_(4417631 3_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	44,176,090	44,176,313

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
nssv17972029	GRCh37: NC_000012.11:g.(?_44176090)_(44176313_?)del	deletion	germline	IRAK4 DEFICIENCY; IRAK4 deficiency; Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	Pathogenic	ClinVar	RCV001963193.5, VCV001459926.6

No genotype data were submitted for this variant

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