A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510546



Internal ID287158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119863114..119874756hg38UCSC Ensembl
chr12:120300918..120312560hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3811643
hg1911643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684863
Samples
Known GenesCIT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510546
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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