A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278505



Internal ID22254125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:35041851..35058008hg38UCSC Ensembl
Outerchr7:35081463..35097620hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg389917
hg199917
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217742
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278505
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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