A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14224



Internal ID15481598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140857862..140858739hg38UCSC Ensembl
Outerchr5:140856783..140859579hg38UCSC Ensembl
Innerchr5:140237447..140238324hg19UCSC Ensembl
Outerchr5:140236368..140239164hg19UCSC Ensembl
Innerchr5:140217631..140218508hg18UCSC Ensembl
Outerchr5:140216552..140219348hg18UCSC Ensembl
Innerchr5:140217631..140218508hg17UCSC Ensembl
Outerchr5:140216552..140219348hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382797
hg192797
hg182797
hg172797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10753
Supporting Variants
SamplesNA10839
Known GenesPCDHA1, PCDHA10, 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)nssv14224
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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