A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29216



Internal ID15843009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131742192..131743817hg38UCSC Ensembl
Outerchr2:131739962..131744306hg38UCSC Ensembl
Innerchr2:132499765..132501390hg19UCSC Ensembl
Outerchr2:132497535..132501879hg19UCSC Ensembl
Innerchr2:132216235..132217860hg18UCSC Ensembl
Outerchr2:132214005..132218349hg18UCSC Ensembl
Innerchr2:132333497..132335122hg17UCSC Ensembl
Outerchr2:132331267..132335611hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg384345
hg194345
hg184345
hg174345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA19173
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)nssv29216
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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