A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29139



Internal ID15832957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131676507..131738095hg38UCSC Ensembl
Outerchr2:131675992..131738643hg38UCSC Ensembl
Innerchr2:132434080..132495668hg19UCSC Ensembl
Outerchr2:132433565..132496216hg19UCSC Ensembl
Innerchr2:132150550..132212138hg18UCSC Ensembl
Outerchr2:132150035..132212686hg18UCSC Ensembl
Innerchr2:132267812..132329400hg17UCSC Ensembl
Outerchr2:132267297..132329948hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3862652
hg1962652
hg1862652
hg1762652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA18502
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)nssv29139
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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