A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545030



Internal ID22414051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112937822..112937822hg38UCSC Ensembl
chr13:113592136..113592136hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14373979, nssv14417478, nssv14443176
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3545030
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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