A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18635



Internal ID15829228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:321506..322499hg38UCSC Ensembl
Outerchr12:320973..323657hg38UCSC Ensembl
Innerchr12:430672..431665hg19UCSC Ensembl
Outerchr12:430139..432823hg19UCSC Ensembl
Innerchr12:300933..301926hg18UCSC Ensembl
Outerchr12:300400..303084hg18UCSC Ensembl
Innerchr12:300933..301926hg17UCSC Ensembl
Outerchr12:300400..303084hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382685
hg192685
hg182685
hg172685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8883
Supporting Variants
SamplesNA10847
Known GenesKDM5A
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)nssv18635
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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