A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27672



Internal ID15497258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:639069..803602hg38UCSC Ensembl
Outerchr16:638149..804328hg38UCSC Ensembl
Innerchr16:689069..853602hg19UCSC Ensembl
Outerchr16:688149..854328hg19UCSC Ensembl
Innerchr16:629070..793603hg18UCSC Ensembl
Outerchr16:628150..794329hg18UCSC Ensembl
Innerchr16:629070..793603hg17UCSC Ensembl
Outerchr16:628150..794329hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38166180
hg19166180
hg18166180
hg17166180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9321
Supporting Variants
SamplesNA19221
Known GenesCCDC78, CHTF18, FAM173A, FAM195A, FBXL16, GNG13, HAGHL, JMJD8, METRN, MIR662, MSLN, NARFL, RHBDL1, RHOT2, RPUSD1, STUB1, WDR24, WDR90
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)nssv27672
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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