A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530999



Internal ID20904360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:66320353..66727243hg38UCSC Ensembl
chr18:63987590..64394480hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38406891
hg19406891
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18197564
Samples
Known GenesCDH19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530999
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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