A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505247



Internal ID282029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117082921..117083536hg38UCSC Ensembl
chr12:117520726..117521341hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684729
Samples
Known GenesTESC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505247
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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