A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476331



Internal ID253944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125082765..125082850hg38UCSC Ensembl
chr8:126095007..126095092hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017176
Samples
Known GenesKIAA0196
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476331
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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