A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184319



Internal ID22338087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241589928..241592198hg38UCSC Ensembl
chr2:242529343..242531613hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382271
hg192271
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5129n152
Supporting Variantsnssv14433136, nssv14433137
SamplesHG00514
Known GenesTHAP4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3184319
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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