A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553720



Internal ID326944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4575623..4575656hg38UCSC Ensembl
chr12:4684789..4684822hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052736
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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