A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533702



Internal ID309586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50939771..50960927hg38UCSC Ensembl
chr20:49556308..49577464hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3821157
hg1921157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732909
Samples
Known GenesDPM1, MOCS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533702
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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