A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399273



Internal ID178663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:152321986..152322037hg38UCSC Ensembl
chr3:152039775..152039826hg19UCSC Ensembl
Cytoband3q25.1
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 Variantsnssv16939030
Samples
Known GenesMBNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399273
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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