A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501836



Internal ID278726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104721145..104723722hg38UCSC Ensembl
chr12:105114923..105117500hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382578
hg192578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690539
Samples
Known GenesCHST11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501836
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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