A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10035



Internal ID15844998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:75157275..75160555hg38UCSC Ensembl
Outerchr2:75384401..75387681hg19UCSC Ensembl
Outerchr2:75237909..75241189hg18UCSC Ensembl
Outerchr2:75296056..75299336hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg383281
hg193281
hg183281
hg173281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28338, nssv26849, nssv28293, nssv26185, nssv28211, nssv28397, nssv28528, nssv28910, nssv28184, nssv27014, nssv28017, nssv27016, nssv26869, nssv26708, nssv27729, nssv28147
SamplesNA18502, NA11830, NA18504, NA12155, NA18563, NA18942, NA10839, NA19007, NA10847, NA10863, NA18853, NA18564, NA19240, NA12740, NA19173, NA18972
Known GenesTACR1
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)nsv10035
Frequency
Sample Size31
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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