A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6518651



Internal ID20892012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80134886..80204996hg38UCSC Ensembl
chr18:77892769..77962879hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3870111
hg1970111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18197976
Samples
Known GenesADNP2, PARD6G, PARD6G-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6518651
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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