A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198817



Internal ID20765857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41681201..41688700hg38UCSC Ensembl
chr19:42185132..42192629hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg387500
hg197498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6520694
Supporting Variants
Samples
Known GenesCEACAM7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198817
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00197


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