A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550827



Internal ID324335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62356615..62356649hg38UCSC Ensembl
chr5:61652442..61652476hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968212
Samples
Known GenesKIF2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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