A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14387451



Internal ID22303794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49142084..49147725hg38UCSC Ensembl
chr15:49434281..49439922hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg385642
hg195642
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212243
Supporting Variants
SamplesNA19240
Known GenesCOPS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14387451
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