A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506484



Internal ID283231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98304203..98304270hg38UCSC Ensembl
chr12:98697981..98698048hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690196
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506484
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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