A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12363



Internal ID15481273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:55685737..55877976hg38UCSC Ensembl
Outerchr4:55470779..55974971hg38UCSC Ensembl
Innerchr4:56551904..56744142hg19UCSC Ensembl
Outerchr4:56336946..56841137hg19UCSC Ensembl
Innerchr4:56246661..56438899hg18UCSC Ensembl
Outerchr4:56031703..56535894hg18UCSC Ensembl
Innerchr4:56392832..56585070hg17UCSC 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 StatusS
Merged Variantsnsv10496
Supporting Variants
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)nssv12363
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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