A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425983



Internal ID204930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51603863..51603914hg38UCSC Ensembl
chr16:51637774..51637825hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709008
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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