A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506917



Internal ID283649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118137755..118141140hg38UCSC Ensembl
chr12:118575560..118578945hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg383386
hg193386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684787
Samples
Known GenesPEBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506917
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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