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dbVar

Database of genomic structural variation

nsv4683444

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:179

Description:NC_000023.11:g.(?_38367271)_(38367449_?)del AND Ornithine carbamoyltransferase deficiency
Publication(s):Ah Mew et al. 2003, Kalia et al. 2016, Lichter-Konecki et al. 2013, Miller et al. 2021, Miller et al. 2022

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: 123 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):38,367,271-38,367,449

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683444	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	38,367,271	38,367,449
nsv4683444	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	38,226,524	38,226,702

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214002	deletion	Multiple	Multiple	ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; Ornithine Transcarbamylase Deficiency; Ornithine carbamoyltransferase deficiency; Ornithine transcarbamylase deficiency	Pathogenic	ClinVar	RCV001032460.6, VCV000831937.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214002	Remapped	Perfect	NC_000023.11:g.(?_ 38367271)_(3836744 9_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	38,367,271	38,367,449
nssv16214002	Submitted genomic		NC_000023.10:g.(?_ 38226524)_(3822670 2_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	38,226,524	38,226,702

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
nssv16214002	GRCh37: NC_000023.10:g.(?_38226524)_(38226702_?)del	deletion	germline	ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; Ornithine Transcarbamylase Deficiency; Ornithine carbamoyltransferase deficiency; Ornithine transcarbamylase deficiency	Pathogenic	ClinVar	RCV001032460.6, VCV000831937.6

No genotype data were submitted for this variant

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