A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200161



Internal ID22349651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71795380..71796795hg38UCSC Ensembl
chr12:72189160..72190575hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1897n152
Supporting Variantsnssv14422163
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200161
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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