A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401425



Internal ID180802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13596048..13596048hg38UCSC Ensembl
chr4:13597672..13597672hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948196
Samples
Known GenesBOD1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401425
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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