A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14100



Internal ID15497311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16511684..16521511hg38UCSC Ensembl
Outerchr1:16510509..16522788hg38UCSC Ensembl
Innerchr1:16838179..16848006hg19UCSC Ensembl
Outerchr1:16837004..16849283hg19UCSC Ensembl
Innerchr1:16710766..16720593hg18UCSC Ensembl
Outerchr1:16709591..16721870hg18UCSC Ensembl
Innerchr1:16583485..16593312hg17UCSC Ensembl
Outerchr1:16582310..16594589hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3812280
hg1912280
hg1812280
hg1712280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA19221
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)nssv14100
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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