A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078793



Internal ID18973492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50094178..50094229hg38UCSC Ensembl
Outerchr20:48710715..48710766hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764097
SamplesKWP1
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078793
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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