A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279680



Internal ID22199223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102248695..102262183hg38UCSC Ensembl
Outerchr7:101891975..101905463hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221675
Supporting Variants
SamplesHG00732
Known GenesCUX1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279680
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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