A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28618



Internal ID15484782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131254208..131278233hg38UCSC Ensembl
Outerchr2:131253237..131282496hg38UCSC Ensembl
Innerchr2:132011781..132035806hg19UCSC Ensembl
Outerchr2:132010810..132040069hg19UCSC Ensembl
Innerchr2:131728251..131752276hg18UCSC Ensembl
Outerchr2:131727280..131756539hg18UCSC Ensembl
Innerchr2:131845513..131869538hg17UCSC Ensembl
Outerchr2:131844542..131873801hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3829260
hg1929260
hg1829260
hg1729260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA12740
Known GenesLOC440910, POTEE
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)nssv28618
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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