A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075452



Internal ID19315811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112786385..112790686hg38UCSC Ensembl
chr13:113440699..113445000hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg384302
hg194302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764693
SamplesKWP1
Known GenesATP11A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075452
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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