A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553273



Internal ID326537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149029593..149029621hg38UCSC Ensembl
chr1:144854822..144854850hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890508
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553273
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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