A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519977



Internal ID296318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57120036..57120307hg38UCSC Ensembl
chr16:57153948..57154219hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709450
Samples
Known GenesCPNE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519977
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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