A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523901



Internal ID300117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6052282..6056350hg38UCSC Ensembl
chr18:6052281..6056349hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384069
hg194069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716075
Samples
Known GenesL3MBTL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523901
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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