A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507620



Internal ID284334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111370251..111374022hg38UCSC Ensembl
chr12:111808055..111811826hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg383772
hg193772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684480
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507620
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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