A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207654



Internal ID22356012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25812491..25816464hg38UCSC Ensembl
chr13:26386629..26390602hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383974
hg193974
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2186n152
Supporting Variantsnssv14417805
SamplesHG00514
Known GenesATP8A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207654
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