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dbVar

Database of genomic structural variation

nsv7097987

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:22,367

Description:NC_000023.10:g.(?_128674417)_(128696783_?)del AND Lowe syndrome
Publication(s):Lewis et al. 2001

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: 86 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):129,540,440-129,562,806

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097987	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	129,540,440	129,562,806
nsv7097987	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	128,674,417	128,696,783

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792238	deletion	Multiple	Multiple	LOWE OCULOCEREBRORENAL SYNDROME; OCRL; Lowe Syndrome; Lowe syndrome; Oculocerebrorenal syndrome of Lowe	Pathogenic	ClinVar	RCV003109331.2, VCV002422782.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792238	Remapped	Perfect	NC_000023.11:g.(?_ 129540440)_(129562 806_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	129,540,440	129,562,806
nssv18792238	Submitted genomic		NC_000023.10:g.(?_ 128674417)_(128696 783_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	128,674,417	128,696,783

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
nssv18792238	GRCh37: NC_000023.10:g.(?_128674417)_(128696783_?)del	deletion	germline	LOWE OCULOCEREBRORENAL SYNDROME; OCRL; Lowe Syndrome; Lowe syndrome; Oculocerebrorenal syndrome of Lowe	Pathogenic	ClinVar	RCV003109331.2, VCV002422782.2

No genotype data were submitted for this variant

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