A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263992



Internal ID22272211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3142350..3153169hg38UCSC Ensembl
Outerchr19:3142348..3153167hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38533
hg19533
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241106
Supporting Variants
SamplesNA19239
Known GenesGNA15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263992
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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