A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8894



Internal ID15846806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6430103..6476374hg38UCSC Ensembl
Outerchr12:6539269..6585540hg19UCSC Ensembl
Outerchr12:6409530..6455801hg18UCSC Ensembl
Outerchr12:6409530..6455801hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3846272
hg1946272
hg1846272
hg1746272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20729
SamplesNA19173
Known GenesCD27, CD27-AS1, TAPBPL, VAMP1
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)nsv8894
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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