A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv173n152



Internal ID22815876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31279959..31280289hg38UCSC Ensembl
chr1:31752806..31753136hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3526127, nsv3205693
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSNRNP40
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)dgv173n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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