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dbVar

Database of genomic structural variation

nsv5381478

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:26,854

Description:NC_000008.10:g.(?_48686714)_(48713567_?)dup AND Severe combined immunodeficiency due to DNA-PKcs 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: 148 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):47,774,153-47,801,006

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381478	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	47,774,153	47,801,006
nsv5381478	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	48,686,714	48,713,567

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867226	duplication	Multiple	Multiple	IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26; Immunodeficiency 26 with or without neurologic abnormalities; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001344480.3, VCV001040781.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867226	Remapped	Perfect	NC_000008.11:g.(?_ 47774153)_(4780100 6_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	47,774,153	47,801,006
nssv16867226	Submitted genomic		NC_000008.10:g.(?_ 48686714)_(4871356 7_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	48,686,714	48,713,567

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
nssv16867226	GRCh37: NC_000008.10:g.(?_48686714)_(48713567_?)dup	duplication	germline	IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26; Immunodeficiency 26 with or without neurologic abnormalities; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001344480.3, VCV001040781.3

No genotype data were submitted for this variant

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