A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545084



Internal ID319161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121784287..121784287hg38UCSC Ensembl
chr12:122222193..122222193hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685029
Samples
Known GenesRHOF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545084
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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