A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280039



Internal ID22155121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2374499..2384691hg38UCSC Ensembl
Outerchr7:2414134..2424326hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg383151
hg193151
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217136
Supporting Variants
SamplesHG00514
Known GenesEIF3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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