A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9152



Internal ID15500378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73514723..73518179hg38UCSC Ensembl
Outerchr14:73981427..73984883hg19UCSC Ensembl
Outerchr14:73051180..73054636hg18UCSC Ensembl
Outerchr14:73051180..73054636hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383457
hg193457
hg183457
hg173457
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20342, nssv21213, nssv23771, nssv21655, nssv21977, nssv21206, nssv20916, nssv21468, nssv22179, nssv22969, nssv19852, nssv24035, nssv25253
SamplesNA18980, NA07029, NA18504, NA18563, NA18860, NA18942, NA07048, NA19007, NA10863, NA18564, NA19240, NA19144, NA12740
Known GenesHEATR4
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)nsv9152
Frequency
Sample Size31
Observed Gain1
Observed Loss12
Observed Complex0
Frequencyn/a


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