A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479732



Internal ID257249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74717522..74717613hg38UCSC Ensembl
chr8:75629757..75629848hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012184
Samples
Known GenesFLJ39080
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479732
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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