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dbVar

Database of genomic structural variation

nsv6290250

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:5,182,441

Description:GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1 AND Neurooculocardiogenitourinary syndrome

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: 21831 SVs from 120 studies. See in: genome view

Remapped(Score: Good):14,561-5,197,001

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6290250	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	14,561	5,197,001
nsv6290250	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	60,501	5,238,964

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17955804	copy number loss	Multiple	Multiple	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS; Neurooculocardiogenitourinary syndrome	Pathogenic	ClinVar	RCV001801187.1, VCV001330170.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17955804	Remapped	Good	NC_000010.11:g.(?_ 14561)_(5197001_?) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	14,561	5,197,001
nssv17955804	Submitted genomic		NC_000010.10:g.(?_ 60501)_(5238964_?) del	GRCh37 (hg19)		NC_000010.10	Chr10	60,501	5,238,964

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	Copy number
nssv17955804	GRCh37: NC_000010.10:g.(?_60501)_(5238964_?)del	copy number loss	unknown	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS; Neurooculocardiogenitourinary syndrome	Pathogenic	ClinVar	RCV001801187.1, VCV001330170.1	1

No genotype data were submitted for this variant

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