A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713879



Internal ID137545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59569739..59569756hg38UCSC Ensembl
chr17:57647100..57647117hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535491
Supporting Variants
Samples
Known GenesDHX40
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713879
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009318


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