A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212243



Internal ID22359556
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387451, nssv14379368, nssv14373447, nssv14381113, nssv14390983
SamplesHG00512, NA19238, NA19239, NA19240, HG00733
Known GenesCOPS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212243
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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