A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554894



Internal ID20927984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50109989..50146983hg38UCSC Ensembl
chr20:48726526..48763520hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3836995
hg1936995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205268
Samples
Known GenesTMEM189, TMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554894
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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