A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24965



Internal ID15485842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105143498..105182744hg38UCSC Ensembl
Outerchr14:105142488..105184215hg38UCSC Ensembl
Innerchr14:105609835..105649081hg19UCSC Ensembl
Outerchr14:105608825..105650552hg19UCSC Ensembl
Innerchr14:104680880..104720126hg18UCSC Ensembl
Outerchr14:104679870..104721597hg18UCSC Ensembl
Innerchr14:104680880..104720126hg17UCSC Ensembl
Outerchr14:104679870..104721597hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3841728
hg1941728
hg1841728
hg1741728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9175
Supporting Variants
SamplesNA18502
Known GenesJAG2, MIR6765, NUDT14
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)nssv24965
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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