A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548748



Internal ID322473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80990188..80990215hg38UCSC Ensembl
chr16:81023793..81023820hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709789
Samples
Known GenesCMC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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