A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549830



Internal ID22418768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50045626..50045626hg38UCSC Ensembl
chr19:50548883..50548883hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38145944
hg19145944
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448026
SamplesHG00733
Known GenesZNF473
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549830
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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