A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178276



Internal ID20745316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81605096..81723001hg38UCSC Ensembl
chr17:79572122..79690031hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38117906
hg19117910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6526209
Supporting Variants
Samples
Known GenesARL16, CCDC137, HGS, MIR6786, MRPL12, NPLOC4, OXLD1, PDE6G, SLC25A10, TSPAN10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178276
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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