A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404462



Internal ID22286242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71068630..71068809hg38UCSC Ensembl
chr14:71535347..71535526hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201273
Supporting Variants
SamplesNA19240
Known GenesPCNX
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404462
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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