A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205714



Internal ID22354367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56197339..56197838hg38UCSC Ensembl
chr18:53864570..53865069hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419802
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205714
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