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dbVar

Database of genomic structural variation

nsv4451189

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:928,239

Description:NC_000008.10:g.(?_42128869)_(43054732_?)dup AND Severe combined immunodeficiency due to IKK2 deficiency

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: 2897 SVs from 87 studies. See in: genome view

Remapped(Score: Good):42,271,351-43,199,589

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4451189	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	42,271,351	43,199,589
nsv4451189	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	42,128,869	43,054,732

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15770331	duplication	Multiple	Multiple	IMMUNODEFICIENCY 15B; IMD15B; Immunodeficiency 15; See individual phenotypes in OMIM allelic variants; Severe combined immunodeficiency due to IKK2 deficiency	Uncertain significance	ClinVar	RCV000803272.2, VCV000648521.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15770331	Remapped	Good	NC_000008.11:g.(?_ 42271351)_(4319958 9_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	42,271,351	43,199,589
nssv15770331	Submitted genomic		NC_000008.10:g.(?_ 42128869)_(4305473 2_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	42,128,869	43,054,732

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
nssv15770331	GRCh37: NC_000008.10:g.(?_42128869)_(43054732_?)dup	duplication	germline	IMMUNODEFICIENCY 15B; IMD15B; Immunodeficiency 15; See individual phenotypes in OMIM allelic variants; Severe combined immunodeficiency due to IKK2 deficiency	Uncertain significance	ClinVar	RCV000803272.2, VCV000648521.2

No genotype data were submitted for this variant

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