A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414231



Internal ID193517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6050827..6050827hg38UCSC Ensembl
chr18:6050826..6050826hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716074
Samples
Known GenesL3MBTL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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