A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732909



Internal ID156575
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 StatusS
Merged Variantsnsv5533702
Supporting Variants
Samples
Known GenesDPM1, MOCS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732909
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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