A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260906



Internal ID22133320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89585383..89687427hg38UCSC Ensembl
Outerchr16:89651791..89753835hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg385692
hg195692
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239107
Supporting Variants
SamplesHG00513
Known GenesCDK10, CHMP1A, CPNE7, DPEP1, SPATA33
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260906
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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