A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247442



Internal ID22376721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55670549..55670668hg38UCSC Ensembl
chr19:56181915..56182034hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14287100, nssv14287098, nssv14287096, nssv14287095, nssv14287103, nssv14287101, nssv14287097, nssv14287102, nssv14287099
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesU2AF2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247442
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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