A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557284



Internal ID330385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123542122..123544380hg38UCSC Ensembl
chr12:124026669..124028927hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382259
hg192259
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690822
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557284
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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