A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279498



Internal ID22122745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:97416523..97423515hg38UCSC Ensembl
Outerchr7:97045835..97052827hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385987
hg195987
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226917
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279498
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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