A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056923



Internal ID105788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53724194..53724194hg38UCSC Ensembl
chr12:54117978..54117978hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542711
Supporting Variants
Samples
Known GenesCALCOCO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056923
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.05587


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