A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711900



Internal ID135566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18312187..18318318hg38UCSC Ensembl
chr17:18215501..18221632hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386132
hg196132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529333
Supporting Variants
Samples
Known GenesSMCR8, TOP3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711900
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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