A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548993



Internal ID322695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106241361..106241386hg38UCSC Ensembl
chr12:106635139..106635164hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690611
Samples
Known GenesCKAP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548993
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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