A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440846



Internal ID219343
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 StatusM
Merged Variants
Supporting Variantsnssv16900956
Samples
Known GenesTSSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440846
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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