A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708990



Internal ID132656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51137928..51138064hg38UCSC Ensembl
chr16:51171839..51171975hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530701
Supporting Variants
Samples
Known GenesSALL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708990
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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