A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511083



Internal ID287682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54890161..54894051hg38UCSC Ensembl
chr12:55283945..55287835hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383891
hg193891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056541
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511083
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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