A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425193



Internal ID22164964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187718142..187718194hg38UCSC Ensembl
chr3:187435930..187435982hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3182617
Supporting Variants
SamplesHG00514
Known GenesLOC100131635
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14425193
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