A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196118



Internal ID22346185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9770373..9770429hg38UCSC Ensembl
chr20:9751021..9751077hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455859
SamplesHG00733
Known GenesPAK7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196118
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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