A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14418921



Internal ID22155794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52248854..52248921hg38UCSC Ensembl
chr16:52282766..52282833hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206349
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)nssv14418921
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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