A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv444n152



Internal ID22816147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161281760..161281834hg38UCSC Ensembl
chr1:161251550..161251624hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3280664, nsv3282188
SamplesHG00733, HG00514
Known GenesPCP4L1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv444n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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