A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712085



Internal ID135751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20443111..20699111hg38UCSC Ensembl
chr17:20346424..20602424hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38256001
hg19256001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530230
Supporting Variants
Samples
Known GenesCDRT15L2, KRT16P3, LGALS9B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712085
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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