A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220797



Internal ID22365393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:57860025..58000294hg38UCSC Ensembl
Outerchr7:57919731..58054331hg19UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38140270
hg19134601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277485, nssv14277486
SamplesNA19238, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220797
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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