A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474554



Internal ID252210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66447304..66447385hg38UCSC Ensembl
chr7:65912291..65912372hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999823
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474554
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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