A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684321



Internal ID107987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108700980..108701142hg38UCSC Ensembl
chr12:109094756..109094918hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496582
Supporting Variants
Samples
Known GenesCORO1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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