A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733961



Internal ID157627
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 StatusS
Merged Variantsnsv5532547
Supporting Variants
Samples
Known GenesANKRD30BP2, MIR3156-3, POTED
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733961
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002499


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