A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13800



Internal ID15497616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8620252..8636069hg38UCSC Ensembl
Outerchr4:8619753..8637016hg38UCSC Ensembl
Innerchr4:8621978..8637795hg19UCSC Ensembl
Outerchr4:8621480..8638742hg19UCSC Ensembl
Innerchr4:8672878..8688695hg18UCSC Ensembl
Outerchr4:8672380..8689642hg18UCSC Ensembl
Innerchr4:8740049..8755866hg17UCSC Ensembl
Outerchr4:8739551..8756813hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3817264
hg1917263
hg1817263
hg1717263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10442
Supporting Variants
SamplesNA19221
Known GenesCPZ
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)nssv13800
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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