A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9605



Internal ID15847517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:6912444..6915167hg38UCSC Ensembl
Outerchr18:6912443..6915166hg19UCSC Ensembl
Outerchr18:6902443..6905166hg18UCSC Ensembl
Outerchr18:6902443..6905166hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382724
hg192724
hg182724
hg172724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23670, nssv24513, nssv23872, nssv25062, nssv26545
SamplesNA11830, NA07048, NA10839, NA18975, NA19240
Known GenesARHGAP28
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)nsv9605
Frequency
Sample Size31
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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