A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447999



Internal ID226286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:34210087..34244212hg38UCSC Ensembl
chr2:34435154..34469279hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3834126
hg1934126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911750
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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