A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900956



Internal ID1434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3196892..3207550hg38UCSC Ensembl
chr2:3200663..3211321hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3810659
hg1910659
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440846
Supporting Variants
Samples
Known GenesTSSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900956
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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