A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366405



Internal ID22302604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112541570..112541854hg38UCSC Ensembl
chr12:112979374..112979658hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528775
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366405
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