A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479594



Internal ID257113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132544216..132574422hg38UCSC Ensembl
chr8:133556463..133586670hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3830207
hg1930208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018663
Samples
Known GenesHPYR1, LRRC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479594
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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