A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557301



Internal ID22426110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5787217..5787217hg38UCSC Ensembl
chr19:5787228..5787228hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38662
hg19662
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393456, nssv14420853, nssv14446236
SamplesNA19240, HG00733, HG00514
Known GenesDUS3L
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)nsv3557301
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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