A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517400



Internal ID293824
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 StatusM
Merged Variants
Supporting Variantsnssv17715335
Samples
Known GenesRAB31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517400
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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