A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532547



Internal ID308467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13115808..13675000hg38UCSC Ensembl
chr21:14488129..15047321hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38559193
hg19559193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733961
Samples
Known GenesANKRD30BP2, MIR3156-3, POTED
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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