A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208853



Internal ID20775893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100305678..100378133hg38UCSC Ensembl
chr3:100024522..100096977hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3872456
hg1972456
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6357476
Supporting Variants
Samples
Known GenesNIT2, TBC1D23, TOMM70A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208853
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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