A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13193



Internal ID15839243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191347183..191353636hg38UCSC Ensembl
Outerchr3:191346459..191354045hg38UCSC Ensembl
Innerchr3:191064972..191071425hg19UCSC Ensembl
Outerchr3:191064248..191071834hg19UCSC Ensembl
Innerchr3:192547666..192554119hg18UCSC Ensembl
Outerchr3:192546942..192554528hg18UCSC Ensembl
Innerchr3:192547674..192554127hg17UCSC Ensembl
Outerchr3:192546950..192554536hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387587
hg197587
hg187587
hg177587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10371
Supporting Variants
SamplesNA18972
Known GenesCCDC50
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)nssv13193
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer