A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482426



Internal ID259883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80290555..80389845hg38UCSC Ensembl
chr7:79919871..80019161hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3899291
hg1999291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998412
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482426
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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