A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404729



Internal ID184075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57625728..57625779hg38UCSC Ensembl
chr3:57611455..57611506hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934855
Samples
Known GenesDENND6A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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