A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533276



Internal ID309171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31406757..31406847hg38UCSC Ensembl
chr18:28986720..28986810hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717066
Samples
Known GenesDSG4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533276
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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