A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179243



Internal ID22335445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31823409..31825437hg38UCSC Ensembl
chr2:32048478..32050506hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg382029
hg192029
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4540n152
Supporting Variantsnssv14421160
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)nsv3179243
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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