A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546773



Internal ID320684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133366843..133366894hg38UCSC Ensembl
chr10:135180347..135180398hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17043496
Samples
Known GenesECHS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546773
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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