A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452604



Internal ID22247486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52898370..52898490hg38UCSC Ensembl
chr3:52932386..52932506hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185353
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14452604
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