A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9244



Internal ID15500470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:41818514..41916607hg38UCSC Ensembl
Outerchr15:42110712..42208805hg19UCSC Ensembl
Outerchr15:39898004..39996097hg18UCSC Ensembl
Outerchr15:39898004..39996097hg17UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3898094
hg1998094
hg1898094
hg1798094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27460
SamplesNA19221
Known GenesEHD4, JMJD7, JMJD7-PLA2G4B, MAPKBP1, MIR4310, PLA2G4B, SPTBN5
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)nsv9244
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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