A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16170



Internal ID15497429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140837290..140840869hg38UCSC Ensembl
Outerchr5:140836204..140841559hg38UCSC Ensembl
Innerchr5:140216875..140220454hg19UCSC Ensembl
Outerchr5:140215789..140221144hg19UCSC Ensembl
Innerchr5:140197059..140200638hg18UCSC Ensembl
Outerchr5:140195973..140201328hg18UCSC Ensembl
Innerchr5:140197059..140200638hg17UCSC Ensembl
Outerchr5:140195973..140201328hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385356
hg195356
hg185356
hg175356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10752
Supporting Variants
SamplesNA19221
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8
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)nssv16170
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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