A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546869



Internal ID320775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75232174..75232194hg38UCSC Ensembl
chr16:75266072..75266092hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710165
Samples
Known GenesBCAR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546869
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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