A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521009



Internal ID297315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53472625..53504625hg38UCSC Ensembl
chr20:52089164..52121164hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3832001
hg1932001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733043
Samples
Known GenesTSHZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521009
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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