A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549182



Internal ID22418130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44653961..44653961hg38UCSC Ensembl
chr11:44675511..44675511hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381338
hg191338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390215
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549182
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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