A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10197



Internal ID15845160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:146097320..146119631hg38UCSC Ensembl
Outerchr2:146854888..146877199hg19UCSC Ensembl
Outerchr2:146571358..146593669hg18UCSC Ensembl
Outerchr2:146688620..146710931hg17UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3822312
hg1922312
hg1822312
hg1722312
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28355, nssv28770, nssv28282, nssv12323, nssv28085, nssv12180, nssv11517, nssv11563, nssv29229, nssv28591, nssv28426, nssv11571, nssv28995, nssv28821, nssv28358, nssv29246, nssv28918, nssv11708
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA18860, NA18942, NA07048, NA18975, NA10847, NA19221, NA19132, NA18564, NA19240, NA19144, NA19173, NA18972
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)nsv10197
Frequency
Sample Size31
Observed Gain12
Observed Loss6
Observed Complex0
Frequencyn/a


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