A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542538



Internal ID316950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:77000382..77000422hg38UCSC Ensembl
chr8:77912618..77912658hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012265
Samples
Known GenesPEX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542538
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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