A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394477



Internal ID173908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88730224..88730273hg38UCSC Ensembl
chr2:89029742..89029791hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915236
Samples
Known GenesRPIA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394477
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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