A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704852



Internal ID128518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4957857..5308524hg38UCSC Ensembl
chr16:5007858..5358525hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38350668
hg19350668
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529697
Supporting Variants
Samples
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, SEC14L5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704852
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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