A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550481



Internal ID324032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31191074..31191074hg38UCSC Ensembl
chr5:31191181..31191181hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964071
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550481
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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