A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14458090



Internal ID22213138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:138835..142583hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg383749
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203463
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)nssv14458090
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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