A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475571



Internal ID253207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:52556220..52573952hg38UCSC Ensembl
chr7:52623916..52641648hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3817733
hg1917733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995398
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475571
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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