A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527749



Internal ID22397136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110701769..110702017hg38UCSC Ensembl
chr12:111139574..111139822hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366352, nssv14366353
SamplesNA19238, NA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527749
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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