A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260844



Internal ID22276265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88318402..88414743hg38UCSC Ensembl
Outerchr16:88352008..88481151hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg382282
hg192282
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237155
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260844
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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