A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18034862



Internal ID20601902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30998707..31000814hg38UCSC Ensembl
chr17:29325725..29327832hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382108
hg192108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505133
Supporting Variants
Samples
Known GenesRNF135
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18034862
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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