A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553232



Internal ID326501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123765704..123765748hg38UCSC Ensembl
chr12:124250251..124250295hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690838
Samples
Known GenesDNAH10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553232
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