A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279616



Internal ID22224849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:42488064..42498002hg38UCSC Ensembl
Outerchr7:42527663..42537601hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386139
hg196139
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218490
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279616
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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