A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211774



Internal ID22359224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:53526210..53599394hg38UCSC Ensembl
Outerchr7:53593903..53667087hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg386437
hg196437
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280042
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211774
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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