A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440505



Internal ID219007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212913434..212913570hg38UCSC Ensembl
chr2:213778158..213778294hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923741
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440505
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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