A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464530



Internal ID242407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62322367..62536048hg38UCSC Ensembl
chr5:61618194..61831875hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38213682
hg19213682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968208
Samples
Known GenesDIMT1, IPO11, KIF2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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