A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18218899



Internal ID20785939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:82628086..85182486hg38UCSC Ensembl
chr8:83540321..86094721hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg382554401
hg192554401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6425699
Supporting Variants
Samples
Known GenesE2F5, LRRCC1, RALYL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18218899
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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