A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12143



Internal ID15839208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131743817..131749323hg38UCSC Ensembl
Outerchr2:131742192..131749840hg38UCSC Ensembl
Innerchr2:132501390..132506896hg19UCSC Ensembl
Outerchr2:132499765..132507413hg19UCSC Ensembl
Innerchr2:132217860..132223366hg18UCSC Ensembl
Outerchr2:132216235..132223883hg18UCSC Ensembl
Innerchr2:132335122..132340628hg17UCSC Ensembl
Outerchr2:132333497..132341145hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg387649
hg197649
hg187649
hg177649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA18972
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)nssv12143
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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