A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709958



Internal ID133624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1513641..1644652hg38UCSC Ensembl
chr17:1416935..1547946hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38131012
hg19131012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514713
Supporting Variants
Samples
Known GenesINPP5K, PITPNA, PITPNA-AS1, SCARF1, SLC43A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709958
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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