A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6682n152



Internal ID22822385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71060685..71060845hg38UCSC Ensembl
chr4:71926402..71926562hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3173835, nsv3520885
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)dgv6682n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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