A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690611



Internal ID114277
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 StatusS
Merged Variantsnsv5548993
Supporting Variants
Samples
Known GenesCKAP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690611
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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