A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713779



Internal ID137445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57835914..57848510hg38UCSC Ensembl
chr17:55913275..55925871hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3812597
hg1912597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530656
Supporting Variants
Samples
Known GenesMRPS23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713779
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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