A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10065



Internal ID15845028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:87028518..87118818hg38UCSC Ensembl
Outerchr2:87255641..87345941hg19UCSC Ensembl
Outerchr2:87109152..87199452hg18UCSC Ensembl
Outerchr2:87167299..87257599hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3890301
hg1990301
hg1890301
hg1790301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26719, nssv27413, nssv27010
SamplesNA07048, NA19007, NA18552
Known GenesLOC285074
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)nsv10065
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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