A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6517817



Internal ID20891178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68019032..68865981hg38UCSC Ensembl
chr18:65686269..66533218hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38846950
hg19846950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18197602
Samples
Known GenesCCDC102B, TMX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6517817
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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