A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709095



Internal ID132761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66453975..66466692hg38UCSC Ensembl
chr16:66487878..66500595hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3812718
hg1912718
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531096
Supporting Variants
Samples
Known GenesBEAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709095
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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