A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28693



Internal ID15828565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111838237..111844816hg38UCSC Ensembl
Outerchr2:111835376..111845453hg38UCSC Ensembl
Innerchr2:112595814..112602393hg19UCSC Ensembl
Outerchr2:112592953..112603030hg19UCSC Ensembl
Innerchr2:112312285..112318864hg18UCSC Ensembl
Outerchr2:112309424..112319501hg18UCSC Ensembl
Innerchr2:112312045..112318624hg17UCSC Ensembl
Outerchr2:112309184..112319261hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3810078
hg1910078
hg1810078
hg1710078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10127
Supporting Variants
SamplesNA10839
Known GenesANAPC1
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)nssv28693
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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