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dbVar

Database of genomic structural variation

nsv7097418

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:2,312

Description:NC_000006.11:g.(?_131900217)_(131902528_?)del AND Arginase deficiency
Publication(s):Ah Mew et al. 2003, Wong et al. 2004

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: 79 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):131,579,077-131,581,388

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097418	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	131,579,077	131,581,388
nsv7097418	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	131,900,217	131,902,528

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791029	deletion	Multiple	Multiple	ARGININEMIA; Arginase Deficiency; Arginase deficiency; Argininemia	Pathogenic	ClinVar	RCV003119135.2, VCV002422189.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791029	Remapped	Perfect	NC_000006.12:g.(?_ 131579077)_(131581 388_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	131,579,077	131,581,388
nssv18791029	Submitted genomic		NC_000006.11:g.(?_ 131900217)_(131902 528_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	131,900,217	131,902,528

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
nssv18791029	GRCh37: NC_000006.11:g.(?_131900217)_(131902528_?)del	deletion	germline	ARGININEMIA; Arginase Deficiency; Arginase deficiency; Argininemia	Pathogenic	ClinVar	RCV003119135.2, VCV002422189.2

No genotype data were submitted for this variant

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