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dbVar

Database of genomic structural variation

nsv7093669

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:932,572

Description:
See descriptions for individual calls in download files
Publication(s):Ganetzky et al. 2021

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: 2240 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):111,300,984-112,233,555

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093669	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	111,300,984	112,233,555
nsv7093669	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	111,171,709	112,104,278

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788984	duplication	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	Uncertain significance	ClinVar	RCV003111003.2, VCV002422869.3
nssv18788985	duplication	Multiple	Multiple	PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase deficiency	Uncertain significance	ClinVar	RCV003111004.2, VCV002422869.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788984	Remapped	Perfect	NC_000011.10:g.(?_ 111300984)_(112233 555_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	111,300,984	112,233,555
nssv18788985	Remapped	Perfect	NC_000011.10:g.(?_ 111300984)_(112233 555_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	111,300,984	112,233,555
nssv18788984	Submitted genomic		NC_000011.9:g.(?_1 11171709)_(1121042 78_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	111,171,709	112,104,278
nssv18788985	Submitted genomic		NC_000011.9:g.(?_1 11171709)_(1121042 78_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	111,171,709	112,104,278

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
nssv18788984	GRCh37: NC_000011.9:g.(?_111171709)_(112104278_?)dup	duplication	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	Uncertain significance	ClinVar	RCV003111003.2, VCV002422869.3
nssv18788985	GRCh37: NC_000011.9:g.(?_111171709)_(112104278_?)dup	duplication	germline	PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase deficiency	Uncertain significance	ClinVar	RCV003111004.2, VCV002422869.3

No genotype data were submitted for this variant

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