A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280251



Internal ID22120771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1897425..1930862hg38UCSC Ensembl
Outerchr7:1937061..1970498hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220997
Supporting Variants
SamplesHG00512
Known GenesMAD1L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280251
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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