A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17002802



Internal ID69489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96053611..96053662hg38UCSC Ensembl
chr7:95682923..95682974hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401818
Supporting Variants
Samples
Known GenesDYNC1I1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17002802
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


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