A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3610n152



Internal ID22819313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67565624..67565711hg38UCSC Ensembl
chr17:65561740..65561827hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3226763, nsv3222648
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesPITPNC1
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)dgv3610n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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