A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217207



Internal ID22362941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:73408890..73418206hg38UCSC Ensembl
Outerchr7:72823220..72832536hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279486
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217207
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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