A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710602



Internal ID134268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:172792..300844hg38UCSC Ensembl
chr17:22583..150635hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38128053
hg19128053
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521620
Supporting Variants
Samples
Known GenesDOC2B, LOC100506371, RPH3AL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710602
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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