A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13938



Internal ID15490132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140834779..140837290hg38UCSC Ensembl
Outerchr5:140834209..140838035hg38UCSC Ensembl
Innerchr5:140214364..140216875hg19UCSC Ensembl
Outerchr5:140213794..140217620hg19UCSC Ensembl
Innerchr5:140194548..140197059hg18UCSC Ensembl
Outerchr5:140193978..140197804hg18UCSC Ensembl
Innerchr5:140194548..140197059hg17UCSC Ensembl
Outerchr5:140193978..140197804hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383827
hg193827
hg183827
hg173827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10752
Supporting Variants
SamplesNA18564
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7
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)nssv13938
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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