A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465482



Internal ID243345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14370416..14371873hg38UCSC Ensembl
chr5:14370525..14371982hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381458
hg191458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962666
Samples
Known GenesTRIO
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465482
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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