A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9344



Internal ID15500570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7035770..7043080hg38UCSC Ensembl
Outerchr16:7085771..7093081hg19UCSC Ensembl
Outerchr16:7025772..7033082hg18UCSC Ensembl
Outerchr16:7025772..7033082hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg387311
hg197311
hg187311
hg177311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22793
SamplesNA19007
Known GenesRBFOX1
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)nsv9344
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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