A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427753



Internal ID206649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5411652..5411652hg38UCSC Ensembl
chr18:5411651..5411651hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716043
Samples
Known GenesEPB41L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427753
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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