A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553981



Internal ID327179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101067126..101067177hg38UCSC Ensembl
chr12:101460904..101460955hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690340
Samples
Known GenesANO4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553981
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer