A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275824



Internal ID22121617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1254612..1293803hg38UCSC Ensembl
Outerchr5:1254727..1293918hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382323
hg192323
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222485
Supporting Variants
SamplesHG00512
Known GenesTERT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275824
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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