A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525480



Internal ID301639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14245507..14287617hg38UCSC Ensembl
chr21:15617828..15659938hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3842111
hg1942111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734046
Samples
Known GenesABCC13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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