A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14431798



Internal ID22174513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:601175..606488hg38UCSC Ensembl
chr19:601175..606488hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385314
hg195314
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190830
Supporting Variants
SamplesHG00514
Known GenesHCN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14431798
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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