A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495600



Internal ID272708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39286145..39310459hg38UCSC Ensembl
chr12:39679947..39704261hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3824315
hg1924315
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058366
Samples
Known GenesKIF21A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495600
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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