A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv260n152



Internal ID22815963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67709904..67710016hg38UCSC Ensembl
chr1:68175587..68175699hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3204855, nsv3205583
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00513
Known GenesGNG12
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)dgv260n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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