A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7896



Internal ID15845808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47350283..47352269hg38UCSC Ensembl
Outerchr6:47318019..47320005hg19UCSC Ensembl
Outerchr6:47425978..47427964hg18UCSC Ensembl
Outerchr6:47425978..47427964hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381987
hg191987
hg181987
hg171987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15608, nssv16453
SamplesNA18504, NA12155
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)nsv7896
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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