A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181920



Internal ID22336818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48764598..48764870hg38UCSC Ensembl
chr6:48732235..48732507hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426859
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)nsv3181920
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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