A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528634



Internal ID304684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57470331..57470972hg38UCSC Ensembl
chr16:57504243..57504884hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709480
Samples
Known GenesPOLR2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528634
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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