A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18231137



Internal ID20798177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48591722..48594581hg38UCSC Ensembl
chr8:49504282..49507141hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg382860
hg192860
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6418983
Supporting Variants
Samples
Known GenesLOC101929268
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18231137
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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