A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225814



Internal ID22368830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73399662..73424714hg38UCSC Ensembl
chr12:73793442..73818494hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3825053
hg1925053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1901n152
Supporting Variantsnssv14362064, nssv14362063
SamplesHG00731, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225814
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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