A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996220



Internal ID20563260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108711648..108714277hg38UCSC Ensembl
chr12:109105424..109108053hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382630
hg192630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488770
Supporting Variants
Samples
Known GenesCORO1C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996220
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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