A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14091



Internal ID15491803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16721849..16723326hg38UCSC Ensembl
Outerchr1:16720720..16724018hg38UCSC Ensembl
Innerchr1:17048344..17049821hg19UCSC Ensembl
Outerchr1:17047215..17050513hg19UCSC Ensembl
Innerchr1:16920931..16922408hg18UCSC Ensembl
Outerchr1:16919802..16923100hg18UCSC Ensembl
Innerchr1:16793650..16795127hg17UCSC Ensembl
Outerchr1:16792521..16795819hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
hg173299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18860
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)nssv14091
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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