A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709409



Internal ID133075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48247011..48247464hg38UCSC Ensembl
chr16:48280922..48281375hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522574
Supporting Variants
Samples
Known GenesLONP2, MIR548AE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709409
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.741805


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