A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718574



Internal ID142240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59482875..59482875hg38UCSC Ensembl
chr18:57150107..57150107hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415729
Supporting Variants
Samples
Known GenesCCBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718574
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.14046


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