A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276334



Internal ID22198634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:109352249..109364403hg38UCSC Ensembl
Outerchr5:108687950..108700104hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217806
Supporting Variants
SamplesHG00732
Known GenesPJA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276334
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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