A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14907



Internal ID15494874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69895275..69909343hg38UCSC Ensembl
Outerchr5:69894925..69909459hg38UCSC Ensembl
Innerchr5:69191102..69205170hg19UCSC Ensembl
Outerchr5:69190752..69205286hg19UCSC Ensembl
Innerchr5:69226858..69240926hg18UCSC Ensembl
Outerchr5:69226508..69241042hg18UCSC Ensembl
Innerchr5:69226858..69240926hg17UCSC Ensembl
Outerchr5:69226508..69241042hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3814535
hg1914535
hg1814535
hg1714535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19132
Known GenesGUSBP9, SMA4
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)nssv14907
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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