A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213284



Internal ID22360276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55523930..55525912hg38UCSC Ensembl
Outerchr7:55591623..55593605hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280114
SamplesHG00732
Known GenesVOPP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213284
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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