A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510226



Internal ID286851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25520490..25529613hg38UCSC Ensembl
chr12:25673424..25682547hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg389124
hg199124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057398
Samples
Known GenesIFLTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510226
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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