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dbVar

Database of genomic structural variation

nsv5674145

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:735,121

Description:NC_000023.10:g.(?_37545215)_(38280335_?)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: 1066 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):37,685,962-38,421,082

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5674145	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	37,685,962	38,421,082
nsv5674145	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	37,545,215	38,280,335

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171990	deletion	Multiple	Multiple	ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; Ornithine Transcarbamylase Deficiency; Ornithine carbamoyltransferase deficiency; Ornithine transcarbamylase deficiency	Pathogenic	ClinVar	RCV001390917.1, VCV001076887.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171990	Remapped	Perfect	NC_000023.11:g.(?_ 37685962)_(3842108 2_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	37,685,962	38,421,082
nssv17171990	Submitted genomic		NC_000023.10:g.(?_ 37545215)_(3828033 5_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	37,545,215	38,280,335

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
nssv17171990	GRCh37: NC_000023.10:g.(?_37545215)_(38280335_?)del	deletion	germline	ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; Ornithine Transcarbamylase Deficiency; Ornithine carbamoyltransferase deficiency; Ornithine transcarbamylase deficiency	Pathogenic	ClinVar	RCV001390917.1, VCV001076887.1

No genotype data were submitted for this variant

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