A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25791



Internal ID15496898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20878015..20881691hg38UCSC Ensembl
Outerchr12:20877677..20882135hg38UCSC Ensembl
Innerchr12:21030949..21034625hg19UCSC Ensembl
Outerchr12:21030611..21035069hg19UCSC Ensembl
Innerchr12:20922216..20925892hg18UCSC Ensembl
Outerchr12:20921878..20926336hg18UCSC Ensembl
Innerchr12:20922216..20925892hg17UCSC Ensembl
Outerchr12:20921878..20926336hg17UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg384459
hg194459
hg184459
hg174459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8928
Supporting Variants
SamplesNA19221
Known GenesSLCO1B3
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)nssv25791
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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