A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24769



Internal ID15492948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73539880..73545821hg38UCSC Ensembl
Outerchr14:73539038..73546325hg38UCSC Ensembl
Innerchr14:74006584..74012525hg19UCSC Ensembl
Outerchr14:74005742..74013029hg19UCSC Ensembl
Innerchr14:73076337..73082278hg18UCSC Ensembl
Outerchr14:73075495..73082782hg18UCSC Ensembl
Innerchr14:73076337..73082278hg17UCSC Ensembl
Outerchr14:73075495..73082782hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg387288
hg197288
hg187288
hg177288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9153
Supporting Variants
SamplesNA18972
Known GenesACOT1, HEATR4
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)nssv24769
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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