A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204421



Internal ID22353273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11112786..11112849hg38UCSC Ensembl
chr2:11252912..11252975hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4483n152
Supporting Variantsnssv14455856
SamplesHG00733
Known GenesFLJ33534
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204421
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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