A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939029



Internal ID26735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:152311710..152311761hg38UCSC Ensembl
chr3:152029499..152029550hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410182
Supporting Variants
Samples
Known GenesMBNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939029
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003746


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