A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172407



Internal ID22331787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221424954..221425007hg38UCSC Ensembl
chr2:222289674..222289727hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408391
SamplesNA19240
Known GenesEPHA4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3172407
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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