A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195690



Internal ID20762730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66187219..66188090hg38UCSC Ensembl
chr17:64183337..64184208hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38872
hg19872
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6522012
Supporting Variants
Samples
Known GenesCEP112
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195690
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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