A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9443



Internal ID15500669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:53307659..53309112hg38UCSC Ensembl
Outerchr16:53341571..53343024hg19UCSC Ensembl
Outerchr16:51899072..51900525hg18UCSC Ensembl
Outerchr16:51899072..51900525hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381454
hg191454
hg181454
hg171454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27003
SamplesNA18860
Known GenesCHD9
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)nsv9443
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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