A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227608



Internal ID20794648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98821501..98825200hg38UCSC Ensembl
chr8:99833729..99837428hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6423200
Supporting Variants
Samples
Known GenesSTK3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227608
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00122


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