A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542638



Internal ID317037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37238187..37238238hg38UCSC Ensembl
chr20:35866590..35866641hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732255
Samples
Known GenesRPN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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