A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234034



Internal ID22372910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16031886..16031972hg38UCSC Ensembl
chr19:16142696..16142782hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393176
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving HSAT satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234034
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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