A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420902



Internal ID199993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42996557..42996563hg38UCSC Ensembl
chr21:44416667..44416673hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727117
Samples
Known GenesPKNOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420902
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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