A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209831



Internal ID22357848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80945501..81081366hg38UCSC Ensembl
chr2:81172625..81308490hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38135866
hg19135866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4648n152
Supporting Variantsnssv14406469
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)nsv3209831
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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