A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8988



Internal ID15500214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:71849270..71854829hg38UCSC Ensembl
Outerchr12:72243050..72248609hg19UCSC Ensembl
Outerchr12:70529317..70534876hg18UCSC Ensembl
Outerchr12:70529317..70534876hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg385560
hg195560
hg185560
hg175560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24370
SamplesNA18860
Known GenesMRS2P2, TBC1D15
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)nsv8988
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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