A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262995



Internal ID22277226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2795885..2823663hg38UCSC Ensembl
Outerchr19:2795883..2823661hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381131
hg191131
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231271
Supporting Variants
SamplesNA19239
Known GenesTHOP1, ZNF554
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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