A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898899



Internal ID46
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:306000..862000hg38UCSC Ensembl
chr2:306000..857686hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38556001
hg19551687
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449548
Supporting Variants
Samples
Known GenesLINC01115, TMEM18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898899
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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