A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549364



Internal ID22418310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8895315..8895315hg38UCSC Ensembl
chr19:9005991..9005991hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3815131
hg1915131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420908
SamplesHG00514
Known GenesMUC16
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549364
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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