A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1168n152



Internal ID22816871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133217338..133239396hg38UCSC Ensembl
chr10:135030842..135052900hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3822059
hg1922059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3214747, nsv3212722
SamplesHG00512, HG00731, NA19240, HG00514
Known GenesKNDC1, UTF1, VENTX
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)dgv1168n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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