A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19996



Internal ID15488736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61285311..61295545hg38UCSC Ensembl
Outerchr11:61282938..61296169hg38UCSC Ensembl
Innerchr11:61052783..61063017hg19UCSC Ensembl
Outerchr11:61050410..61063641hg19UCSC Ensembl
Innerchr11:60809359..60819593hg18UCSC Ensembl
Outerchr11:60806986..60820217hg18UCSC Ensembl
Innerchr11:60809359..60819593hg17UCSC Ensembl
Outerchr11:60806986..60820217hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3813232
hg1913232
hg1813232
hg1713232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8834
Supporting Variants
SamplesNA18552
Known GenesVWCE
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)nssv19996
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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