A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448119



Internal ID226403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108967243..108973351hg38UCSC Ensembl
chr2:109583699..109589807hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg386109
hg196109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916522
Samples
Known GenesEDAR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448119
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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