A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196354



Internal ID22346381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145291314..145407875hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38116562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv404n152
Supporting Variantsnssv14407215
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196354
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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