A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10512



Internal ID15845475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:65780458..65784866hg38UCSC Ensembl
Outerchr4:66646176..66650584hg19UCSC Ensembl
Outerchr4:66328771..66333179hg18UCSC Ensembl
Outerchr4:66474942..66479350hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg384409
hg194409
hg184409
hg174409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv29198, nssv12176, nssv13011
SamplesNA18860, NA19007, NA12872
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)nsv10512
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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