A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040695



Internal ID94838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116576137..116597360hg38UCSC Ensembl
chr10:118335649..118356872hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3821224
hg1921224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508166
Supporting Variants
Samples
Known GenesPNLIPRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040695
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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