A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715335



Internal ID139001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9690051..9735216hg38UCSC Ensembl
chr18:9690048..9735213hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3845166
hg1945166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517400
Supporting Variants
Samples
Known GenesRAB31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715335
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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