A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480334



Internal ID257842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:62625435..62625502hg38UCSC Ensembl
chr8:63537994..63538061hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012861
Samples
Known GenesNKAIN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480334
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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