A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557784



Internal ID330871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6986335..6986372hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055074
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557784
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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