A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505927



Internal ID282687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73152848..73153469hg38UCSC Ensembl
chr12:73546628..73547249hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38622
hg19622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689073
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505927
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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