A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476672



Internal ID254277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143003113..143012251hg38UCSC Ensembl
chr8:144084530..144093668hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg389139
hg199139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018417
Samples
Known GenesLOC100133669
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476672
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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