A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260389



Internal ID22184184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30183240..30193046hg38UCSC Ensembl
Outerchr16:30194561..30204367hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38102752
hg19102752
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235563
Supporting Variants
SamplesHG00731
Known GenesBOLA2, BOLA2B, CORO1A, LOC606724
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260389
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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