A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278031



Internal ID22119973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131673725..131691641hg38UCSC Ensembl
Outerchr7:131358484..131376400hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228034
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278031
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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