A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558731



Internal ID331788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111304552..111304603hg38UCSC Ensembl
chr11:111175277..111175328hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17050201
Samples
Known GenesCOLCA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558731
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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