A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202350



Internal ID22351529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9392151..9401250hg38UCSC Ensembl
chr2:9532280..9541379hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4466n152
Supporting Variantsnssv14407471
SamplesNA19240
Known GenesASAP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202350
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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