A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211683



Internal ID22359161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81705229..81752388hg38UCSC Ensembl
chr12:82099008..82146167hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3847160
hg1947160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1916n152
Supporting Variantsnssv14449955
SamplesHG00733
Known GenesPPFIA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211683
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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