A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220627



Internal ID22365275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:119182957..119221008hg38UCSC Ensembl
Outerchr7:118823011..118861062hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3838052
hg1938052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277381, nssv14277379, nssv14277380, nssv14277382
SamplesHG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220627
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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