A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25711



Internal ID15488704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55646197..55655804hg38UCSC Ensembl
Outerchr2:55645590..55656616hg38UCSC Ensembl
Innerchr2:55873332..55882939hg19UCSC Ensembl
Outerchr2:55872725..55883751hg19UCSC Ensembl
Innerchr2:55726836..55736443hg18UCSC Ensembl
Outerchr2:55726229..55737255hg18UCSC Ensembl
Innerchr2:55784983..55794590hg17UCSC Ensembl
Outerchr2:55784376..55795402hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3811027
hg1911027
hg1811027
hg1711027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9791
Supporting Variants
SamplesNA18552
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)nssv25711
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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