A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5120n152



Internal ID22820823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241091493..241091555hg38UCSC Ensembl
chr2:242030908..242030970hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3173546, nsv3183603
SamplesNA19240, HG00514
Known GenesMTERFD2, SNED1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5120n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer