A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4269n152



Internal ID22819972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40563590..40563823hg38UCSC Ensembl
chr19:41069496..41069729hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3542122, nsv3217227
SamplesHG00512, NA19240, HG00733, HG00514
Known GenesSPTBN4
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4269n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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