A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6679n152



Internal ID22822382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70516301..70516407hg38UCSC Ensembl
chr4:71382018..71382124hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3281872, nsv3280420
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6679n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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