A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442647



Internal ID221068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55235643..55235708hg38UCSC Ensembl
chr2:55462779..55462844hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725877
Samples
Known GenesRPS27A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442647
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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