A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14393253



Internal ID22309278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16267189..16268347hg38UCSC Ensembl
chr12:16420123..16421281hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381159
hg191159
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198085
Supporting Variants
SamplesNA19240
Known GenesSLC15A5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14393253
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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