A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8883



Internal ID15846795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:320973..323657hg38UCSC Ensembl
Outerchr12:430139..432823hg19UCSC Ensembl
Outerchr12:300400..303084hg18UCSC Ensembl
Outerchr12:300400..303084hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382685
hg192685
hg182685
hg172685
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18635, nssv20036, nssv23266, nssv18712
SamplesNA18942, NA19007, NA10847, NA18517
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)nsv8883
Frequency
Sample Size31
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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