A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234403



Internal ID20801443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129152401..129154000hg38UCSC Ensembl
chr8:130164647..130166246hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6435346
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234403
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0009


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