A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201290



Internal ID22350624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:197206..197318hg38UCSC Ensembl
chr12:306372..306484hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1669n152
Supporting Variantsnssv14383543
SamplesNA19240
Known GenesSLC6A12
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201290
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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