A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191792



Internal ID22342452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12174139..12174202hg38UCSC Ensembl
chr1:12234196..12234259hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv110n152
Supporting Variantsnssv14377907
SamplesNA19240
Known GenesTNFRSF1B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191792
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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