A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217499



Internal ID20784539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51403801..51409000hg38UCSC Ensembl
chr8:52316361..52321560hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg385200
hg195200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6430389
Supporting Variants
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217499
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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