A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208153



Internal ID22356440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:166683473..166683589hg38UCSC Ensembl
chr5:166110478..166110594hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7600n152
Supporting Variantsnssv14463435
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208153
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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