A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209950



Internal ID22357948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13288836..13288888hg38UCSC Ensembl
chr18:13288835..13288887hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419150
SamplesHG00514
Known GenesLDLRAD4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209950
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