A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215913



Internal ID20782953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157649201..157654100hg38UCSC Ensembl
chr5:157076209..157081108hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411674
Supporting Variants
Samples
Known GenesSOX30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215913
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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