A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713056



Internal ID136722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39629461..39629511hg38UCSC Ensembl
chr17:37785714..37785764hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523618
Supporting Variants
Samples
Known GenesPPP1R1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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