A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28359



Internal ID15496677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55684155..55711628hg38UCSC Ensembl
Outerchr2:55683119..55712118hg38UCSC Ensembl
Innerchr2:55911290..55938763hg19UCSC Ensembl
Outerchr2:55910254..55939253hg19UCSC Ensembl
Innerchr2:55764794..55792267hg18UCSC Ensembl
Outerchr2:55763758..55792757hg18UCSC Ensembl
Innerchr2:55822941..55850414hg17UCSC Ensembl
Outerchr2:55821905..55850904hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3829000
hg1929000
hg1829000
hg1729000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9802
Supporting Variants
SamplesNA19173
Known GenesPNPT1
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)nssv28359
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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