A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453824



Internal ID231935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205432779..205436660hg38UCSC Ensembl
chr2:206297503..206301384hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383882
hg193882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927969
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453824
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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