A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518737



Internal ID295107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2219252..2241558hg38UCSC Ensembl
chr16:2269253..2291559hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3822307
hg1922307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706754
Samples
Known GenesDNASE1L2, E4F1, ECI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518737
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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