A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191458



Internal ID22342162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29920478..29920646hg38UCSC Ensembl
chr13:30494615..30494783hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444143
SamplesHG00733
Known GenesLINC00572
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191458
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