A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215850



Internal ID22362041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50053383..50118283hg38UCSC Ensembl
chr19:50556640..50621540hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3864901
hg1964901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4310n152
Supporting Variantsnssv14462687
SamplesHG00733
Known GenesFLJ26850, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215850
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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