A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20675



Internal ID15482300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89830660..89831934hg38UCSC Ensembl
Outerchr16:89829349..89832451hg38UCSC Ensembl
Innerchr16:89897068..89898342hg19UCSC Ensembl
Outerchr16:89895757..89898859hg19UCSC Ensembl
Innerchr16:88424569..88425843hg18UCSC Ensembl
Outerchr16:88423258..88426360hg18UCSC Ensembl
Innerchr16:88424569..88425843hg17UCSC Ensembl
Outerchr16:88423258..88426360hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg383103
hg193103
hg183103
hg173103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9478
Supporting Variants
SamplesNA10847
Known GenesSPIRE2
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)nssv20675
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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