A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496558



Internal ID273631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45420938..45427786hg38UCSC Ensembl
chr12:45814721..45821569hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386849
hg196849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058462
Samples
Known GenesANO6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496558
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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