A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541653



Internal ID316230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190479524..190479575hg38UCSC Ensembl
chr2:191344250..191344301hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923259
Samples
Known GenesMFSD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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