A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548297



Internal ID322065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22625879..22625879hg38UCSC Ensembl
chr8:22483392..22483392hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010269
Samples
Known GenesBIN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548297
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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