A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208190



Internal ID20775230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3069033..3430014hg38UCSC Ensembl
chr2:3072805..3433785hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38360982
hg19360981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6342194
Supporting Variants
Samples
Known GenesTRAPPC12, TSSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208190
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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