A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456820



Internal ID234879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43664548..43682548hg38UCSC Ensembl
chr5:43664650..43682650hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3818001
hg1918001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965352
Samples
Known GenesNNT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456820
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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