A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208208



Internal ID20775248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32403832..33107415hg38UCSC Ensembl
chr2:32628900..33332482hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38703584
hg19703583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335984
Supporting Variants
Samples
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208208
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00099


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