A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10220



Internal ID15498497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219520228..219522576hg38UCSC Ensembl
Outerchr2:220384950..220387298hg19UCSC Ensembl
Outerchr2:220093194..220095542hg18UCSC Ensembl
Outerchr2:220210455..220212803hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382349
hg192349
hg182349
hg172349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12473
SamplesNA18972
Known GenesASIC4
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)nsv10220
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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