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dbVar

Database of genomic structural variation

nsv4681229

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:919,572

Description:NC_000001.10:g.(?_9770494)_(10690064_?)del AND Immunodeficiency 14

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: 3055 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):9,710,436-10,630,007

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681229	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	9,710,436	10,630,007
nsv4681229	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	9,770,494	10,690,064

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213602	deletion	Multiple	Multiple	Activated PI3K-delta syndrome; IMMUNODEFICIENCY 14; IMD14; Immunodeficiency 14; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001031897.1, VCV000831335.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213602	Remapped	Perfect	NC_000001.11:g.(?_ 9710436)_(10630007 _?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	9,710,436	10,630,007
nssv16213602	Submitted genomic		NC_000001.10:g.(?_ 9770494)_(10690064 _?)del	GRCh37 (hg19)		NC_000001.10	Chr1	9,770,494	10,690,064

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
nssv16213602	GRCh37: NC_000001.10:g.(?_9770494)_(10690064_?)del	deletion	germline	Activated PI3K-delta syndrome; IMMUNODEFICIENCY 14; IMD14; Immunodeficiency 14; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001031897.1, VCV000831335.1

No genotype data were submitted for this variant

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