A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498346



Internal ID275337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53490600..53491125hg38UCSC Ensembl
chr12:53884384..53884909hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058679
Samples
Known GenesMAP3K12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498346
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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