A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18221847



Internal ID20788887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139600401..140174600hg38UCSC Ensembl
chr8:140612644..141184699hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38574200
hg19572056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6430707
Supporting Variants
Samples
Known GenesKCNK9, TRAPPC9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18221847
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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