A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449548



Internal ID227780
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 StatusM
Merged Variants
Supporting Variantsnssv16898899
Samples
Known GenesLINC01115, TMEM18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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