A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545656



Internal ID22414664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50811486..50811486hg38UCSC Ensembl
chr19:51314743..51314743hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420953, nssv14394057, nssv14448040
SamplesNA19240, HG00733, HG00514
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)nsv3545656
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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