A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563482



Internal ID336416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100760576..100882484hg38UCSC Ensembl
chr2:101377038..101498946hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38121909
hg19121909
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916355
Samples
Known GenesNPAS2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563482
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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