A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390025



Internal ID22294977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24872948..24875697hg38UCSC Ensembl
chr16:24884269..24887018hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg382750
hg192750
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194558
Supporting Variants
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)nssv14390025
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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