A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547185



Internal ID321061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50446976..50446976hg38UCSC Ensembl
chr1:50912648..50912648hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902913
Samples
Known GenesFAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547185
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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