A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724747



Internal ID148413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54931579..54939209hg38UCSC Ensembl
chr17:53008940..53016570hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387631
hg197631
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532789
Supporting Variants
Samples
Known GenesTOM1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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