A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28634



Internal ID15494176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234051508..234052863hg38UCSC Ensembl
Outerchr2:234051054..234053740hg38UCSC Ensembl
Innerchr2:234960152..234961507hg19UCSC Ensembl
Outerchr2:234959698..234962384hg19UCSC Ensembl
Innerchr2:234624891..234626246hg18UCSC Ensembl
Outerchr2:234624437..234627123hg18UCSC Ensembl
Innerchr2:234742152..234743507hg17UCSC Ensembl
Outerchr2:234741698..234744384hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382687
hg192687
hg182687
hg172687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10224
Supporting Variants
SamplesNA18980
Known GenesSPP2
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)nssv28634
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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