A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395485



Internal ID22299296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1875730..1875730hg38UCSC Ensembl
chr20:1856376..1856376hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382532
hg192532
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550350
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)nssv14395485
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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