A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543138



Internal ID22412202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44480813..44480813hg38UCSC Ensembl
chr11:44502363..44502363hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440439
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543138
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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