A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303027



Internal ID22224377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17911873..17911873hg38UCSC Ensembl
chr22:18394639..18394639hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562107
Supporting Variants
SamplesHG00733
Known GenesMICAL3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303027
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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