A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198789



Internal ID22348472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1864701..1868250hg38UCSC Ensembl
chr2:1868473..1872022hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4429n152
Supporting Variantsnssv14406304, nssv14432503
SamplesNA19240, HG00514
Known GenesMYT1L
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198789
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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