A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708973



Internal ID132639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50654254..50854695hg38UCSC Ensembl
chr16:50688165..50888606hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38200442
hg19200442
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524165
Supporting Variants
Samples
Known GenesCYLD, NOD2, SNX20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708973
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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