A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22494



Internal ID15493439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:59657950..59945055hg38UCSC Ensembl
Outerchr16:59601336..59998937hg38UCSC Ensembl
Innerchr16:59691854..59978959hg19UCSC Ensembl
Outerchr16:59635240..60032841hg19UCSC Ensembl
Innerchr16:58249355..58536460hg18UCSC Ensembl
Outerchr16:58192741..58590342hg18UCSC Ensembl
Innerchr16:58249355..58536460hg17UCSC Ensembl
Outerchr16:58192741..58590342hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38397602
hg19397602
hg18397602
hg17397602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9451
Supporting Variants
SamplesNA18975
Known GenesAPOOP5
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)nssv22494
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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