A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8003n152



Internal ID22823706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:88078524..88093227hg38UCSC Ensembl
chr6:88788242..88802945hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3814704
hg1914704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3203908, nsv3202256
SamplesNA19238, NA19240
Known Genes
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)dgv8003n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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