A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996939



Internal ID20563979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110736663..110741283hg38UCSC Ensembl
chr12:111174468..111179088hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg384621
hg194621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491519
Supporting Variants
Samples
Known GenesPPP1CC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996939
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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