A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420080



Internal ID22157518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16967862..16967862hg38UCSC Ensembl
chr19:17078672..17078672hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3544007
Supporting Variants
SamplesHG00514
Known GenesCPAMD8
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14420080
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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