A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521005



Internal ID297311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12201787..12261152hg38UCSC Ensembl
chr18:12201786..12261151hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3859366
hg1959366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716283
Samples
Known GenesC18orf61, CIDEA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521005
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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