A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522164



Internal ID298437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57395871..57395966hg38UCSC Ensembl
chr20:55970927..55971022hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733295
Samples
Known GenesMIR5095, RBM38
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522164
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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