A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416691



Internal ID22152523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:197205..197317hg38UCSC Ensembl
chr12:306371..306483hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202924
Supporting Variants
SamplesHG00514
Known GenesSLC6A12
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14416691
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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