A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18228619



Internal ID20795659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60515701..60517900hg38UCSC Ensembl
chr8:61428260..61430459hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426350
Supporting Variants
Samples
Known GenesRAB2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18228619
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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