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dbVar

Database of genomic structural variation

nsv7093917

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:413

Description:NC_000011.9:g.(?_112103876)_(112104288_?)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: 82 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):112,233,153-112,233,565

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093917	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	112,233,153	112,233,565
nsv7093917	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	112,103,876	112,104,288

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788983	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	RCV003111002.2, VCV002422868.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788983	Remapped	Perfect	NC_000011.10:g.(?_ 112233153)_(112233 565_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	112,233,153	112,233,565
nssv18788983	Submitted genomic		NC_000011.9:g.(?_1 12103876)_(1121042 88_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	112,103,876	112,104,288

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
nssv18788983	GRCh37: NC_000011.9:g.(?_112103876)_(112104288_?)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	RCV003111002.2, VCV002422868.3

No genotype data were submitted for this variant

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