A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484675



Internal ID262086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139518671..139519919hg38UCSC Ensembl
chr7:139203417..139204665hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381249
hg191249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003747
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484675
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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