A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407216



Internal ID22297637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5210580..5210660hg38UCSC Ensembl
chr18:5210579..5210659hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199886
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14407216
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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