A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562718



Internal ID335662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97898215..97898266hg38UCSC Ensembl
chr12:98291993..98292044hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690176
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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