A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18232688



Internal ID20799728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40224300..40226922hg38UCSC Ensembl
chr8:40081819..40084441hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382623
hg192623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426222
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18232688
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00046


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