A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14419970



Internal ID22157359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38131783..38132758hg38UCSC Ensembl
chr19:38622423..38623398hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg38976
hg19976
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209610
Supporting Variants
SamplesHG00514
Known GenesSIPA1L3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14419970
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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