A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22578



Internal ID15490028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21475886..21582279hg38UCSC Ensembl
Outerchr16:21475432..21585318hg38UCSC Ensembl
Innerchr16:21487207..21593600hg19UCSC Ensembl
Outerchr16:21486753..21596639hg19UCSC Ensembl
Innerchr16:21394708..21501101hg18UCSC Ensembl
Outerchr16:21394254..21504140hg18UCSC Ensembl
Innerchr16:21394708..21501101hg17UCSC Ensembl
Outerchr16:21394254..21504140hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38109887
hg19109887
hg18109887
hg17109887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9397
Supporting Variants
SamplesNA18564
Known GenesLOC100271836, SLC7A5P2
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)nssv22578
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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