A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9751n152



Internal ID22825454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126698859..126706350hg38UCSC Ensembl
chr9:129461138..129468629hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg387492
hg197492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3218587, nsv3221621
SamplesHG00514
Known GenesLMX1B
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)dgv9751n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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