A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214658



Internal ID22361249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138673707..138688939hg38UCSC Ensembl
Outerchr7:138358452..138373684hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38953
hg19953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280089
SamplesHG00731
Known GenesSVOPL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214658
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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