A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279320



Internal ID22318436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:98807508..98816492hg38UCSC Ensembl
Outerchr7:98405131..98414115hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382897
hg192897
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222376
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279320
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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