A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229352



Internal ID22371229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:81047901..81047952hg38UCSC Ensembl
chr11:80758944..80758995hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1478n152
Supporting Variantsnssv14417343
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229352
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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