A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8565n152



Internal ID22824268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66386014..66411625hg38UCSC Ensembl
chr7:65851001..65876612hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3825612
hg1925612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229031, nsv3195248
SamplesHG00731, HG00513, HG00514
Known GenesLINC00174
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)dgv8565n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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