A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16093



Internal ID15486555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31261993..31263287hg38UCSC Ensembl
Outerchr1:31261438..31264322hg38UCSC Ensembl
Innerchr1:31734840..31736134hg19UCSC Ensembl
Outerchr1:31734285..31737169hg19UCSC Ensembl
Innerchr1:31507427..31508721hg18UCSC Ensembl
Outerchr1:31506872..31509756hg18UCSC Ensembl
Innerchr1:31403933..31405227hg17UCSC Ensembl
Outerchr1:31403378..31406262hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg382885
hg192885
hg182885
hg172885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10051
Supporting Variants
SamplesNA18504
Known GenesSNRNP40
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)nssv16093
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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