A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27063



Internal ID15491502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75504596..75540906hg38UCSC Ensembl
Outerchr16:75502225..75542284hg38UCSC Ensembl
Innerchr16:75538494..75574804hg19UCSC Ensembl
Outerchr16:75536123..75576182hg19UCSC Ensembl
Innerchr16:74095995..74132305hg18UCSC Ensembl
Outerchr16:74093624..74133683hg18UCSC Ensembl
Innerchr16:74095995..74132305hg17UCSC Ensembl
Outerchr16:74093624..74133683hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3840060
hg1940060
hg1840060
hg1740060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9461
Supporting Variants
SamplesNA18860
Known GenesCHST5, TMEM231
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)nssv27063
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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