A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9280



Internal ID15847192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1962190..1966426hg38UCSC Ensembl
Outerchr2:1965962..1970198hg19UCSC Ensembl
Outerchr2:1944969..1949205hg18UCSC Ensembl
Outerchr2:1936259..1940495hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg384237
hg194237
hg184237
hg174237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27617
SamplesNA12155
Known GenesMYT1L
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)nsv9280
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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