A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410665



Internal ID189980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13596063..13596114hg38UCSC Ensembl
chr4:13597687..13597738hg19UCSC 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 Variantsnssv16948198
Samples
Known GenesBOD1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410665
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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