A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486263



Internal ID263632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81756638..81756884hg38UCSC Ensembl
chr8:82668873..82669119hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013936
Samples
Known GenesCHMP4C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486263
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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