A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3180292



Internal ID22336000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8588150..8588200hg38UCSC Ensembl
chr2:8728280..8728330hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4464n152
Supporting Variantsnssv14420215
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3180292
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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