A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527044



Internal ID303151
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 StatusM
Merged Variants
Supporting Variantsnssv17732537
Samples
Known GenesFITM2, GDAP1L1, R3HDML
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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