A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18233195



Internal ID20800235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48663945..48670353hg38UCSC Ensembl
chr8:49576505..49582913hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg386409
hg196409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6420466
Supporting Variants
Samples
Known GenesLOC101929268
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18233195
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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