A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078332



Internal ID19325590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20840..41041hg38UCSC Ensembl
chr12:64699..84900hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3820202
hg1920202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770328
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078332
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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