A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7441n152



Internal ID22823144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94953923..94953993hg38UCSC Ensembl
chr5:94289627..94289697hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3284409, nsv3204924
SamplesHG00512, HG00514
Known GenesMCTP1
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)dgv7441n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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