A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6517288



Internal ID20890649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9805193..9806114hg38UCSC Ensembl
chr18:9805190..9806111hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38922
hg19922
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18198005
Samples
Known GenesRAB31
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6517288
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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