A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500519



Internal ID277452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49281704..49297681hg38UCSC Ensembl
chr12:49675487..49691464hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3815978
hg1915978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058265
Samples
Known GenesPRPH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500519
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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