A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202385



Internal ID22351559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5996256..5996321hg38UCSC Ensembl
chr19:5996267..5996332hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420855
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)nsv3202385
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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