A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206998



Internal ID20774038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70173363..70183552hg38UCSC Ensembl
chr2:70400495..70410684hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3810190
hg1910190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339460
Supporting Variants
Samples
Known GenesC2orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206998
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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