A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22035



Internal ID15488089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73528019..73535372hg38UCSC Ensembl
Outerchr14:73525409..73536028hg38UCSC Ensembl
Innerchr14:73994723..74002076hg19UCSC Ensembl
Outerchr14:73992113..74002732hg19UCSC Ensembl
Innerchr14:73064476..73071829hg18UCSC Ensembl
Outerchr14:73061866..73072485hg18UCSC Ensembl
Innerchr14:73064476..73071829hg17UCSC Ensembl
Outerchr14:73061866..73072485hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3810620
hg1910620
hg1810620
hg1710620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9153
Supporting Variants
SamplesNA18537
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)nssv22035
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer