A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260097



Internal ID22201658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2062481..2121886hg38UCSC Ensembl
Outerchr16:2112482..2171887hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382595
hg192595
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239719
Supporting Variants
SamplesHG00732
Known GenesMIR1225, MIR6511B-1, PKD1, TSC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260097
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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