A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448970



Internal ID227221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209882614..209893236hg38UCSC Ensembl
chr2:210747338..210757960hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3810623
hg1910623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924811
Samples
Known GenesUNC80
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448970
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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