A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23018



Internal ID15837444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58613508..58615533hg38UCSC Ensembl
Outerchr16:58612765..58616828hg38UCSC Ensembl
Innerchr16:58647412..58649437hg19UCSC Ensembl
Outerchr16:58646669..58650732hg19UCSC Ensembl
Innerchr16:57204913..57206938hg18UCSC Ensembl
Outerchr16:57204170..57208233hg18UCSC Ensembl
Innerchr16:57204913..57206938hg17UCSC Ensembl
Outerchr16:57204170..57208233hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg384064
hg194064
hg184064
hg174064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9448
Supporting Variants
SamplesNA18853
Known GenesCNOT1
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)nssv23018
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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