A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14411806



Internal ID22286590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40548198..40548279hg38UCSC Ensembl
chr5:40548300..40548381hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184914
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)nssv14411806
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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