A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18222123



Internal ID20789163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96185559..96289990hg38UCSC Ensembl
chr8:97197787..97302218hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38104432
hg19104432
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6422593
Supporting Variants
Samples
Known GenesMTERFD1, PTDSS1, UQCRB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18222123
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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