A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21532



Internal ID15839174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54729066..54744178hg38UCSC Ensembl
Outerchr16:54728512..54745735hg38UCSC Ensembl
Innerchr16:54762978..54778090hg19UCSC Ensembl
Outerchr16:54762424..54779647hg19UCSC Ensembl
Innerchr16:53320479..53335591hg18UCSC Ensembl
Outerchr16:53319925..53337148hg18UCSC Ensembl
Innerchr16:53320479..53335591hg17UCSC Ensembl
Outerchr16:53319925..53337148hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3817224
hg1917224
hg1817224
hg1717224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9444
Supporting Variants
SamplesNA18942
Known Genes
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)nssv21532
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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