A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495181



Internal ID272301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91684954..91685030hg38UCSC Ensembl
chr12:92078731..92078807hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690013
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495181
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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