A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18232238



Internal ID20799278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23225576..23227788hg38UCSC Ensembl
chr8:23083089..23085301hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382213
hg192213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6420370
Supporting Variants
Samples
Known GenesLOC389641
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18232238
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00772


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