A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412686



Internal ID191988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95793704..95793755hg38UCSC Ensembl
chr7:95423016..95423067hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002167
Samples
Known GenesDYNC1I1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412686
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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