A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280691



Internal ID22185415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:138198904..138215285hg38UCSC Ensembl
Outerchr8:139211147..139227528hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg381547
hg191547
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235304
Supporting Variants
SamplesHG00731
Known GenesFAM135B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280691
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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