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dbVar

Database of genomic structural variation

nsv5672778

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:9,609

Description:NC_000011.9:g.(?_112096088)_(112105696_?)del AND 6-Pyruvoyl-tetrahydrobiopterin synthase 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: 104 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):112,225,365-112,234,973

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5672778	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	112,225,365	112,234,973
nsv5672778	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	112,096,088	112,105,696

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172400	deletion	Multiple	Multiple	6-pyruvoyl-tetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency; HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A; Hyperphenylalaninemia due to tetrahydrobiopterin deficiency; Server error < EMBL-EBI	Pathogenic	ClinVar	RCV001380354.4, VCV001068717.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172400	Remapped	Perfect	NC_000011.10:g.(?_ 112225365)_(112234 973_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	112,225,365	112,234,973
nssv17172400	Submitted genomic		NC_000011.9:g.(?_1 12096088)_(1121056 96_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	112,096,088	112,105,696

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
nssv17172400	GRCh37: NC_000011.9:g.(?_112096088)_(112105696_?)del	deletion	germline	6-pyruvoyl-tetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency; HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A; Hyperphenylalaninemia due to tetrahydrobiopterin deficiency; Server error < EMBL-EBI	Pathogenic	ClinVar	RCV001380354.4, VCV001068717.5

No genotype data were submitted for this variant

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