A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3454n152



Internal ID22819157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9881368..9881676hg38UCSC Ensembl
chr17:9784685..9784993hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3522145, nsv3175998
SamplesNA19238, NA19239, NA19240
Known GenesGLP2R
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)dgv3454n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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