A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3414n152



Internal ID22819117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1052532..1052669hg38UCSC Ensembl
chr17:955772..955909hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3284603, nsv3286230
SamplesNA19240, HG00733
Known GenesABR
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3414n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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