A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227273



Internal ID22369819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2127246..2127298hg38UCSC Ensembl
chr11:2148476..2148528hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1236n152
Supporting Variantsnssv14387526, nssv14442230
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227273
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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