A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10760



Internal ID15845723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150898040..150904359hg38UCSC Ensembl
Outerchr5:150277602..150283921hg19UCSC Ensembl
Outerchr5:150257795..150264114hg18UCSC Ensembl
Outerchr5:150257795..150264114hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg386320
hg196320
hg186320
hg176320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16260
SamplesNA19221
Known GenesZNF300
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)nsv10760
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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