A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2931n152



Internal ID22818634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55953953..55960409hg38UCSC Ensembl
chr15:56246151..56252607hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg386457
hg196457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3228181, nsv3211122
SamplesHG00514
Known GenesNEDD4
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)dgv2931n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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