A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14361304



Internal ID22269159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117512351..117515450hg38UCSC Ensembl
chr11:117383066..117386165hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229787
Supporting Variants
SamplesNA19238
Known GenesDSCAML1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14361304
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