A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548479



Internal ID22417435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:87863780..87863780hg38UCSC Ensembl
chr13:88516035..88516035hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417048
SamplesHG00514
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)nsv3548479
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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