A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10191



Internal ID15845154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:132208373..132290301hg38UCSC Ensembl
Outerchr2:132965946..133047874hg19UCSC Ensembl
Outerchr2:132682416..132764344hg18UCSC Ensembl
Outerchr2:132799678..132881606hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3881929
hg1981929
hg1881929
hg1781929
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28232, nssv28336, nssv11473, nssv28386, nssv28866, nssv11678, nssv28308, nssv28394, nssv28791, nssv29230, nssv28732, nssv27398, nssv29199, nssv11594, nssv28099, nssv12090, nssv28000, nssv28753, nssv28305, nssv28525, nssv12263, nssv28100
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA07048, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA18517, NA19144, NA12740, NA18972
Known GenesANKRD30BL, MIR663B
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)nsv10191
Frequency
Sample Size31
Observed Gain19
Observed Loss1
Observed Complex0
Frequencyn/a


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