A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523251



Internal ID20896612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:340908..547674hg38UCSC Ensembl
chr18:340908..547674hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38206767
hg19206767
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194129
Samples
Known GenesCOLEC12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523251
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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