A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8017



Internal ID15845929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170342901..170345012hg38UCSC Ensembl
Outerchr6:170651989..170654100hg19UCSC Ensembl
Outerchr6:170493914..170496025hg18UCSC Ensembl
Outerchr6:170569621..170571732hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382112
hg192112
hg182112
hg172112
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16963, nssv17007, nssv14905
SamplesNA18980, NA18504, NA19132
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)nsv8017
Frequency
Sample Size31
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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