A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186903



Internal ID22339443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107827644..107827759hg38UCSC Ensembl
chr2:108444100..108444215hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408271
SamplesNA19240
Known GenesRGPD4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3186903
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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