A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10192



Internal ID15498469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:132421908..132423721hg38UCSC Ensembl
Outerchr2:133179481..133181294hg19UCSC Ensembl
Outerchr2:132895951..132897764hg18UCSC Ensembl
Outerchr2:133013213..133015026hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg381814
hg191814
hg181814
hg171814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11503
SamplesNA18504
Known GenesGPR39
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10192
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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