A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473225



Internal ID250913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62654774..62855947hg38UCSC Ensembl
chr5:61950601..62151774hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38201174
hg19201174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968238
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473225
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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