A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509444



Internal ID286096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124646253..124651916hg38UCSC Ensembl
chr12:125130799..125136462hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385664
hg195664
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690896
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509444
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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