A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264784



Internal ID22209988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13535250..13538115hg38UCSC Ensembl
Outerchr19:13646064..13648929hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243137
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264784
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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