A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486204



Internal ID263575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:85076351..85076469hg38UCSC Ensembl
chr7:84705667..84705785hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998984
Samples
Known GenesSEMA3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486204
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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