A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714854



Internal ID138520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78420414..78420527hg38UCSC Ensembl
chr17:76416495..76416608hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515933
Supporting Variants
Samples
Known GenesPGS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714854
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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