A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204879



Internal ID22353661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93768967..93769023hg38UCSC Ensembl
chr14:94235313..94235369hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430455, nssv14404539, nssv14466074
SamplesNA19240, HG00733, HG00514
Known GenesPRIMA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204879
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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