A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709103



Internal ID132769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66579699..66579778hg38UCSC Ensembl
chr16:66613602..66613681hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520523
Supporting Variants
Samples
Known GenesCMTM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709103
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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