A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556985



Internal ID330103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23290200..23290251hg38UCSC Ensembl
chr16:23301521..23301572hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705790
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556985
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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