A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14360543



Internal ID22143592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67520851..67524850hg38UCSC Ensembl
chr11:67288322..67292321hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214843
Supporting Variants
SamplesHG00513
Known GenesCABP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14360543
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