A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078407



Internal ID18969366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89186791..89191492hg38UCSC Ensembl
chr16:89253199..89257900hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg384702
hg194702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764499
SamplesKWP1
Known GenesCDH15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078407
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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