A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527611



Internal ID303704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:5004687..5310668hg38UCSC Ensembl
chr16:5054688..5360669hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38305982
hg19305982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv188n206
Supporting Variantsnssv17704857
Samples
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, SEC14L5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527611
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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