A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497765



Internal ID274789
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 StatusM
Merged Variants
Supporting Variantsnssv17690022
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497765
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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