A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539323



Internal ID314289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5142290..5142311hg38UCSC Ensembl
chr21:45539625..45539646hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733759
Samples
Known GenesPWP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539323
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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