A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213119



Internal ID22360162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75440347..75442573hg38UCSC Ensembl
Outerchr7:75069626..75071847hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382054
hg192054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279523
SamplesHG00513
Known GenesPOM121C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213119
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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