A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451488



Internal ID229670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32403832..33107416hg38UCSC Ensembl
chr2:32628900..33332483hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38703585
hg19703584
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912060
Samples
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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