A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532277



Internal ID308203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12693647..12696256hg38UCSC Ensembl
chr18:12693646..12696255hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716325
Samples
Known GenesCEP76, PSMG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532277
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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