A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187661



Internal ID22339848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232575275..232575338hg38UCSC Ensembl
chr2:233439985..233440048hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394689
SamplesNA19240
Known GenesEIF4E2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3187661
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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