A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6316n152



Internal ID22822019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193436807..193437119hg38UCSC Ensembl
chr3:193154596..193154908hg19UCSC Ensembl
Cytoband3q29
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 Variantsnsv3182506, nsv3176339
SamplesNA19239, NA19240
Known GenesATP13A4
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)dgv6316n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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