A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488468



Internal ID265780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42752720..42814191hg38UCSC Ensembl
chr7:42792319..42853790hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3861472
hg1961472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16996298
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488468
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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