A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195853



Internal ID22345965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90970977..90971507hg38UCSC Ensembl
chr12:91364754..91365284hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443615
SamplesHG00733
Known GenesEPYC
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195853
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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