A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480696



Internal ID258196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:87152108..87159630hg38UCSC Ensembl
chr8:88164336..88171858hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg387523
hg197523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015518
Samples
Known GenesCNBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480696
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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