A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214568



Internal ID22361188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:145784732..145847911hg38UCSC Ensembl
Outerchr7:145481825..145545004hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3863180
hg1963180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277762
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214568
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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