A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143367



Internal ID342568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121554532..121571772hg38UCSC Ensembl
chr12:121992437..122009677hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3817241
hg1917241
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684991
Samples
Known GenesKDM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143367
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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