A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8594



Internal ID15499820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:134401..137561hg38UCSC Ensembl
Outerchr10:180341..183501hg19UCSC Ensembl
Outerchr10:170341..173501hg18UCSC Ensembl
Outerchr10:170341..173501hg17UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg383161
hg193161
hg183161
hg173161
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19037, nssv18989, nssv18933, nssv18637, nssv17642, nssv19478, nssv18290, nssv16729, nssv18346, nssv16511, nssv18999, nssv18726, nssv16930
SamplesNA11830, NA07029, NA12155, NA18563, NA12802, NA07048, NA10863, NA12872, NA18572, NA18853, NA12740, NA19173, NA18552
Known GenesZMYND11
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)nsv8594
Frequency
Sample Size31
Observed Gain12
Observed Loss1
Observed Complex0
Frequencyn/a


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