A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397100



Internal ID176509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115321874..115321915hg38UCSC Ensembl
chr1:115864495..115864536hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889308
Samples
Known GenesNGF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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