A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12778



Internal ID15496113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16546040..16546604hg38UCSC Ensembl
Outerchr1:16544737..16547546hg38UCSC Ensembl
Innerchr1:16872535..16873099hg19UCSC Ensembl
Outerchr1:16871232..16874041hg19UCSC Ensembl
Innerchr1:16745122..16745686hg18UCSC Ensembl
Outerchr1:16743819..16746628hg18UCSC Ensembl
Innerchr1:16617841..16618405hg17UCSC Ensembl
Outerchr1:16616538..16619347hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382810
hg192810
hg182810
hg172810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA19144
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)nssv12778
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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