A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7966n152



Internal ID22823669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72068703..72182627hg38UCSC Ensembl
chr6:72778406..72892330hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38113925
hg19113925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3206200, nsv3202553
SamplesHG00733
Known GenesRIMS1
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7966n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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