A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503558



Internal ID280379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101432354..101468296hg38UCSC Ensembl
chr12:101826132..101862074hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3835943
hg1935943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690354
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503558
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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