A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473932



Internal ID251612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117898657..117916734hg38UCSC Ensembl
chr8:118910896..118928973hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3818078
hg1918078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015312
Samples
Known GenesEXT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473932
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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