A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690022



Internal ID113688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91910968..91935386hg38UCSC Ensembl
chr12:92304744..92329162hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3824419
hg1924419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497765
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690022
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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