A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715342



Internal ID139008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9807157..9807218hg38UCSC Ensembl
chr18:9807154..9807215hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518889
Supporting Variants
Samples
Known GenesRAB31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715342
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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