A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394006



Internal ID22311469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46389388..46389440hg38UCSC Ensembl
chr19:46892645..46892697hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205073
Supporting Variants
SamplesNA19240
Known GenesPPP5C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394006
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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