A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563648



Internal ID336579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28493775..28493826hg38UCSC Ensembl
chr16:28505096..28505147hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38772
hg19772
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707254
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563648
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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