A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220954



Internal ID20787994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:138087601..138162100hg38UCSC Ensembl
chr9:140982053..141056552hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3874500
hg1974500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6450277
Supporting Variants
Samples
Known GenesCACNA1B, TUBBP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220954
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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