A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8020



Internal ID15845932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170455301..170469123hg38UCSC Ensembl
Outerchr6:170764389..170778211hg19UCSC Ensembl
Outerchr6:170606314..170620136hg18UCSC Ensembl
Outerchr6:170682021..170695843hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3813823
hg1913823
hg1813823
hg1713823
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14870, nssv17393, nssv17714, nssv15419, nssv16632, nssv15243, nssv17940, nssv15479, nssv15516, nssv17684, nssv15273, nssv14645, nssv17363, nssv14642, nssv17053, nssv17127
SamplesNA18502, NA07029, NA18504, NA07048, NA10847, NA10863, NA19221, NA18853, NA19132, NA18517, NA19173, NA18972
Known Genes
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)nsv8020
Frequency
Sample Size31
Observed Gain8
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer