A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280085



Internal ID22184490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:121723054..121742295hg38UCSC Ensembl
Outerchr7:121363108..121382349hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221434
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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