A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28776



Internal ID15831049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131576098..131577045hg38UCSC Ensembl
Outerchr2:131575271..131578253hg38UCSC Ensembl
Innerchr2:132333671..132334618hg19UCSC Ensembl
Outerchr2:132332844..132335826hg19UCSC Ensembl
Innerchr2:132050141..132051088hg18UCSC Ensembl
Outerchr2:132049314..132052296hg18UCSC Ensembl
Innerchr2:132167403..132168350hg17UCSC Ensembl
Outerchr2:132166576..132169558hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg382983
hg192983
hg182983
hg172983
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA12740
Known GenesRNU6-81P
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)nssv28776
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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