A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1285n152



Internal ID22816988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19533692..19534004hg38UCSC Ensembl
chr11:19555239..19555551hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3189253, nsv3523469
SamplesNA19239, NA19240
Known GenesNAV2
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)dgv1285n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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