A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545837



Internal ID319844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29157120..29157133hg38UCSC Ensembl
chr12:29310053..29310066hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056956
Samples
Known GenesFAR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545837
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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