A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278596



Internal ID22305964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:143113738..143125078hg38UCSC Ensembl
Outerchr7:142810831..142822171hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg386052
hg196052
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221332
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278596
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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