A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551840



Internal ID22420744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27370994..27370994hg38UCSC Ensembl
chr13:27945131..27945131hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367475, nssv14367473, nssv14367476, nssv14367474, nssv14367477, nssv14372875, nssv14416225
SamplesHG00512, NA19238, NA19240, HG00513, HG00514
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
CommentsSee descriptions for individual calls in download files
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3551840
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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