A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509335



Internal ID285993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130615550..130672673hg38UCSC Ensembl
chr12:131100095..131157218hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3857124
hg1957124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685461
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509335
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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