A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403230



Internal ID182593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:141580583..141580634hg38UCSC Ensembl
chr4:142501736..142501787hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956360
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403230
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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