A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363229



Internal ID22185039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32916243..32917822hg38UCSC Ensembl
chr12:33069177..33070756hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381580
hg191580
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220059
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14363229
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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