A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10232



Internal ID15845195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241796061..241845643hg38UCSC Ensembl
Outerchr2:242735476..242787795hg19UCSC Ensembl
Outerchr2:242384149..242436468hg18UCSC Ensembl
Outerchr2:242455466..242507785hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3849583
hg1952320
hg1852320
hg1752320
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28951, nssv12390, nssv28980, nssv28505, nssv11652, nssv11888
SamplesNA18502, NA12155, NA07048, NA10839, NA10863, NA19221
Known GenesGAL3ST2, NEU4
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)nsv10232
Frequency
Sample Size31
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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