A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550962



Internal ID324458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34712885..34712950hg38UCSC Ensembl
chr21:36085183..36085248hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734729
Samples
Known GenesCLIC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550962
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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