A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6552704



Internal ID20925830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50131972..50136453hg38UCSC Ensembl
chr20:48748509..48752990hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg384482
hg194482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18069048
Samples
Known GenesTMEM189, TMEM189-UBE2V1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6552704
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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