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dbVar

Database of genomic structural variation

nsv7094244

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:1,089,682

Description:NC_000014.8:g.(?_20915399)_(22005055_?)del AND Purine-nucleoside phosphorylase 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: 3892 SVs from 112 studies. See in: genome view

Remapped(Score: Good):20,447,240-21,536,921

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094244	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	20,447,240	21,536,921
nsv7094244	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	20,915,399	22,005,055

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792218	deletion	Multiple	Multiple	PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; Purine nucleoside phosphorylase deficiency; Purine-nucleoside phosphorylase deficiency; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003109308.2, VCV002422759.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792218	Remapped	Good	NC_000014.9:g.(?_2 0447240)_(21536921 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	20,447,240	21,536,921
nssv18792218	Submitted genomic		NC_000014.8:g.(?_2 0915399)_(22005055 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	20,915,399	22,005,055

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
nssv18792218	GRCh37: NC_000014.8:g.(?_20915399)_(22005055_?)del	deletion	germline	PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; Purine nucleoside phosphorylase deficiency; Purine-nucleoside phosphorylase deficiency; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003109308.2, VCV002422759.2

No genotype data were submitted for this variant

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