A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473357



Internal ID251043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16472441..16477753hg38UCSC Ensembl
chr7:16512066..16517378hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg385313
hg195313
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16993827
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473357
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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