A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20965



Internal ID15840439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97602717..97609830hg38UCSC Ensembl
Outerchr12:97537180..97614177hg38UCSC Ensembl
Innerchr12:97996495..98003608hg19UCSC Ensembl
Outerchr12:97930958..98007955hg19UCSC Ensembl
Innerchr12:96520626..96527739hg18UCSC Ensembl
Outerchr12:96455089..96532086hg18UCSC Ensembl
Innerchr12:96498963..96506076hg17UCSC Ensembl
Outerchr12:96433426..96510423hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3876998
hg1976998
hg1876998
hg1776998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9001
Supporting Variants
SamplesNA18980
Known GenesMIR135A2
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)nssv20965
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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