A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216621



Internal ID22362559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:35039322..35058008hg38UCSC Ensembl
Outerchr7:35078934..35097620hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3818687
hg1918687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277367, nssv14277366
SamplesHG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216621
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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