A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10752



Internal ID15845715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140834209..140841559hg38UCSC Ensembl
Outerchr5:140213794..140221144hg19UCSC Ensembl
Outerchr5:140193978..140201328hg18UCSC Ensembl
Outerchr5:140193978..140201328hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387351
hg197351
hg187351
hg177351
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16163, nssv13938, nssv16170, nssv12701, nssv13526
SamplesNA19007, NA12872, NA19221, NA18564, NA18972
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)nsv10752
Frequency
Sample Size31
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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