A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711262



Internal ID134928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8305883..8356856hg38UCSC Ensembl
chr17:8209201..8260174hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3850974
hg1950974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525019
Supporting Variants
Samples
Known GenesARHGEF15, ODF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711262
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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