A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428857



Internal ID207715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23696386..23696437hg38UCSC Ensembl
chr16:23707707..23707758hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708011
Samples
Known GenesERN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428857
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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