A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420855



Internal ID22158662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5996256..5996321hg38UCSC Ensembl
chr19:5996267..5996332hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202385
Supporting Variants
SamplesHG00514
Known GenesLOC100128568, RFX2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14420855
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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