A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275966



Internal ID22190447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14343907..14349526hg38UCSC Ensembl
Outerchr5:14344016..14349635hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38824
hg19824
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222187
Supporting Variants
SamplesHG00731
Known GenesTRIO
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275966
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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