A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449244



Internal ID227487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213190502..213191405hg38UCSC Ensembl
chr2:214055226..214056129hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38904
hg19904
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923760
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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