A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482830



Internal ID260276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140979282..140985720hg38UCSC Ensembl
chr7:140679082..140685520hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg386439
hg196439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004676
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482830
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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