A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264768



Internal ID22268247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47412801..47420964hg38UCSC Ensembl
Outerchr19:47916058..47924221hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384555
hg194555
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230821
Supporting Variants
SamplesNA19238
Known GenesMEIS3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264768
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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