A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8018



Internal ID15845930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170376821..170378274hg38UCSC Ensembl
Outerchr6:170685909..170687362hg19UCSC Ensembl
Outerchr6:170527834..170529287hg18UCSC Ensembl
Outerchr6:170603541..170604994hg17UCSC Ensembl
Cytoband6q27
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 Variantsnssv17037, nssv15244, nssv14935, nssv14717, nssv16993, nssv15183, nssv14582, nssv14585, nssv15359, nssv14170, nssv16572, nssv14985, nssv15456, nssv17031, nssv15998, nssv14840, nssv15871, nssv17333, nssv14452, nssv15228, nssv13819, nssv15268, nssv14544, nssv17880, nssv14887
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA10847, NA10863, NA18572, NA19221, NA18537, NA18853, NA19132, NA18564, NA19240, NA19144, NA19173, NA18972
Known GenesFAM120B
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)nsv8018
Frequency
Sample Size31
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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