A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548552



Internal ID22417505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46161937..46161937hg38UCSC Ensembl
chr11:46183488..46183488hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14414802
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)nsv3548552
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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