A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2405n152



Internal ID22818108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101067255..101067307hg38UCSC Ensembl
chr13:101719607..101719659hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3215395, nsv3284700
SamplesHG00733
Known GenesNALCN
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2405n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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