A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24748



Internal ID15495128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73538242..73546325hg38UCSC Ensembl
Outerchr14:73537343..73546736hg38UCSC Ensembl
Innerchr14:74004946..74013029hg19UCSC Ensembl
Outerchr14:74004047..74013440hg19UCSC Ensembl
Innerchr14:73074699..73082782hg18UCSC Ensembl
Outerchr14:73073800..73083193hg18UCSC Ensembl
Innerchr14:73074699..73082782hg17UCSC Ensembl
Outerchr14:73073800..73083193hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg389394
hg199394
hg189394
hg179394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9153
Supporting Variants
SamplesNA19132
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)nssv24748
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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