A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511484



Internal ID288063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112072064..112074674hg38UCSC Ensembl
chr12:112509868..112512478hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg382611
hg192611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684535
Samples
Known GenesNAA25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511484
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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