A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537881



Internal ID313073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49980356..49980376hg38UCSC Ensembl
chr12:50374139..50374159hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056436
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537881
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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