A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420047



Internal ID22157465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13936849..13936908hg38UCSC Ensembl
chr19:14047662..14047721hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209892
Supporting Variants
SamplesHG00514
Known GenesPODNL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14420047
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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