A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190683



Internal ID20757723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30977255..30992361hg38UCSC Ensembl
chr17:29304273..29319379hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3815107
hg1915107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6503164
Supporting Variants
Samples
Known GenesRNF135
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190683
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer