A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5412n152



Internal ID22821115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:6570445..6579098hg38UCSC Ensembl
chr21:44598017..44606670hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388654
hg198654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3227030, nsv3212749
SamplesHG00513, 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)dgv5412n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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