A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457745



Internal ID235783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7683628..7683711hg38UCSC Ensembl
chr5:7683741..7683824hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16963592
Samples
Known GenesADCY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457745
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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