A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477448



Internal ID255031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95863298..95863383hg38UCSC Ensembl
chr7:95492610..95492695hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002178
Samples
Known GenesDYNC1I1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477448
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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