A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457307



Internal ID22251389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14314217..14314292hg38UCSC Ensembl
chr19:14425029..14425104hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221207
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14457307
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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