A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214171



Internal ID22360900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:108857869..108875065hg38UCSC Ensembl
Outerchr7:108498313..108515122hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg385652
hg195652
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278003
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214171
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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