A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189031



Internal ID22340564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127168714..127172057hg38UCSC Ensembl
chr2:127926290..127929633hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383344
hg193344
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14432614
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)nsv3189031
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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