A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506617



Internal ID283357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92022257..92022321hg38UCSC Ensembl
chr12:92416033..92416097hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684078
Samples
Known GenesC12orf79
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506617
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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