A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13484



Internal ID15834524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76861954..76866188hg38UCSC Ensembl
Outerchr4:76857109..76871833hg38UCSC Ensembl
Innerchr4:77783107..77787341hg19UCSC Ensembl
Outerchr4:77778262..77792986hg19UCSC Ensembl
Innerchr4:78002131..78006365hg18UCSC Ensembl
Outerchr4:77997286..78012010hg18UCSC Ensembl
Innerchr4:78140286..78144520hg17UCSC Ensembl
Outerchr4:78135441..78150165hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3814725
hg1914725
hg1814725
hg1714725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10527
Supporting Variants
SamplesNA18517
Known Genes
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)nssv13484
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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