A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202924



Internal ID22352017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:197205..197317hg38UCSC Ensembl
chr12:306371..306483hg19UCSC 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 Variantsnssv14416691
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)nsv3202924
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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