A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709407



Internal ID133073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48090052..48090103hg38UCSC Ensembl
chr16:48123963..48124014hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423646
Supporting Variants
Samples
Known GenesABCC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709407
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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