A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280115



Internal ID22207314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56039878..56058670hg38UCSC Ensembl
Outerchr7:56107571..56126363hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211330
Supporting Variants
SamplesHG00732
Known GenesCCT6A, PSPH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280115
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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