A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23933



Internal ID15486951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87935794..87945145hg38UCSC Ensembl
Outerchr14:87934624..87945563hg38UCSC Ensembl
Innerchr14:88402138..88411489hg19UCSC Ensembl
Outerchr14:88400968..88411907hg19UCSC Ensembl
Innerchr14:87471891..87481242hg18UCSC Ensembl
Outerchr14:87470721..87481660hg18UCSC Ensembl
Innerchr14:87471891..87481242hg17UCSC Ensembl
Outerchr14:87470721..87481660hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3810940
hg1910940
hg1810940
hg1710940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9165
Supporting Variants
SamplesNA18504
Known GenesGALC
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)nssv23933
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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