A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190866



Internal ID22341662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5289284..5293149hg38UCSC Ensembl
chr1:5349344..5353209hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg383866
hg193866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv79n152
Supporting Variantsnssv14457549
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)nsv3190866
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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