A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7987



Internal ID15845899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160754160..160755618hg38UCSC Ensembl
Outerchr6:161175192..161176650hg19UCSC Ensembl
Outerchr6:161095182..161096640hg18UCSC Ensembl
Outerchr6:161145603..161147061hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381459
hg191459
hg181459
hg171459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020, nssv14925
SamplesNA12802, NA18537
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)nsv7987
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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