A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239719



Internal ID22374501
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260098, nssv14260099, nssv14260094, nssv14260093, nssv14260095, nssv14260097, nssv14260096, nssv14260100, nssv14260101
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMIR1225, MIR6511B-1, PKD1, TSC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239719
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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