A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509521



Internal ID286172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41081800..41094128hg38UCSC Ensembl
chr12:41475602..41487930hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3812329
hg1912329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056655
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509521
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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