A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263090



Internal ID22120106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7331023..7336551hg38UCSC Ensembl
Outerchr19:7396105..7401455hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244857
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263090
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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