A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292585



Internal ID22272249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43063063..43063141hg38UCSC Ensembl
chr2:43290201..43290279hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190530
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292585
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