A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv882924



Internal ID6289935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134340386..134385234hg19UCSC Ensembl
Outerchr5:134329463..134392420hg19UCSC Ensembl
Innerchr5:134368285..134413133hg18UCSC Ensembl
Outerchr5:134357362..134420319hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1556113
SamplesMS21814
Known GenesCATSPER3, PITX1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv882924
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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