A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14418414



Internal ID22155067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14281286..14281414hg38UCSC Ensembl
chr16:14375143..14375271hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206118
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14418414
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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