A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181938



Internal ID22336829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241589448..241592001hg38UCSC Ensembl
chr2:242528863..242531416hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382554
hg192554
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5129n152
Supporting Variantsnssv14408417, nssv14408416
SamplesNA19240
Known GenesTHAP4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3181938
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