A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18226493



Internal ID20793533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120492501..120500700hg38UCSC Ensembl
chr9:123254779..123262978hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg388200
hg198200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6453535
Supporting Variants
Samples
Known GenesCDK5RAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18226493
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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