A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508031



Internal ID284732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122024138..122024895hg38UCSC Ensembl
chr12:122462044..122462801hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685061
Samples
Known GenesBCL7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508031
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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