A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219642



Internal ID20786682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47709266..47709754hg38UCSC Ensembl
chr8:48621828..48622316hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6433863
Supporting Variants
Samples
Known GenesSPIDR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219642
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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