A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10754



Internal ID15499031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140882774..140894999hg38UCSC Ensembl
Outerchr5:140262359..140274584hg19UCSC Ensembl
Outerchr5:140242543..140254768hg18UCSC Ensembl
Outerchr5:140242543..140254768hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3812226
hg1912226
hg1812226
hg1712226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16223
SamplesNA18972
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)nsv10754
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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