A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514341



Internal ID290839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:27044292..27044574hg38UCSC Ensembl
chr18:24624256..24624538hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716833
Samples
Known GenesCHST9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514341
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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