A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12173



Internal ID15839209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131760126..131760779hg38UCSC Ensembl
Outerchr2:131759427..131761531hg38UCSC Ensembl
Innerchr2:132517699..132518352hg19UCSC Ensembl
Outerchr2:132517000..132519104hg19UCSC Ensembl
Innerchr2:132234169..132234822hg18UCSC Ensembl
Outerchr2:132233470..132235574hg18UCSC Ensembl
Innerchr2:132351431..132352084hg17UCSC Ensembl
Outerchr2:132350732..132352836hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg382105
hg192105
hg182105
hg172105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA18972
Known GenesC2orf27A
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)nssv12173
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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