A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18229431



Internal ID20796471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42880490..42887087hg38UCSC Ensembl
chr8:42735633..42742230hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg386598
hg196598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6419222
Supporting Variants
Samples
Known GenesRNF170
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18229431
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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