A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10496



Internal ID15498773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55470779..55974971hg38UCSC Ensembl
Outerchr4:56336946..56841137hg19UCSC Ensembl
Outerchr4:56031703..56535894hg18UCSC Ensembl
Outerchr4:56177874..56682065hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38504193
hg19504192
hg18504192
hg17504192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12363
SamplesNA07048
Known GenesCEP135, CLOCK, EXOC1, LOC644145, NMU, PDCL2
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)nsv10496
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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