A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449736



Internal ID227964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27396542..27401503hg38UCSC Ensembl
chr2:27619409..27624370hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg384962
hg194962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910317
Samples
Known GenesPPM1G
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449736
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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