A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263425



Internal ID22257366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54852983..54882305hg38UCSC Ensembl
Outerchr19:55364438..55393729hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231702
Supporting Variants
SamplesNA19238
Known GenesFCAR, KIR3DL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263425
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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