A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500793



Internal ID277719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75676431..75677871hg38UCSC Ensembl
chr12:76070211..76071651hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381441
hg191441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689239
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500793
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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