A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540519



Internal ID315272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69974052..69974088hg38UCSC Ensembl
chr2:70201184..70201220hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914030
Samples
Known GenesPCBP1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540519
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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