A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522808



Internal ID299067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8774591..8863093hg38UCSC Ensembl
chr16:8868448..8956950hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3888503
hg1988503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706858
Samples
Known GenesABAT, CARHSP1, PMM2, TMEM186
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522808
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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