A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732537



Internal ID156203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44266050..44338813hg38UCSC Ensembl
chr20:42894690..42967453hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3872764
hg1972764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527044
Supporting Variants
Samples
Known GenesFITM2, GDAP1L1, R3HDML
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732537
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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