A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217636



Internal ID20784676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:138041901..138191300hg38UCSC Ensembl
chr9:140936353..141085752hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38149400
hg19149400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6451381
Supporting Variants
Samples
Known GenesCACNA1B, TUBBP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217636
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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