A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548121



Internal ID321902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58708504..58708555hg38UCSC Ensembl
chr20:57283560..57283611hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733350
Samples
Known GenesNPEPL1, STX16-NPEPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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