A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449312



Internal ID227553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112482190..112482248hg38UCSC Ensembl
chr2:113239767..113239825hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729995
Samples
Known GenesTTL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449312
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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