A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194558



Internal ID22344860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24872948..24875697hg38UCSC Ensembl
chr16:24884269..24887018hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg382750
hg192750
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3186n152
Supporting Variantsnssv14390025
SamplesNA19240
Known GenesSLC5A11
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194558
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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