A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4169n152



Internal ID22819872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17627655..17649025hg38UCSC Ensembl
chr19:17738464..17759834hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3821371
hg1921371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221461, nsv3222632
SamplesHG00514
Known GenesUNC13A
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)dgv4169n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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