A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228640



Internal ID22370759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55155855..55188321hg38UCSC Ensembl
Outerchr7:55223548..55256014hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280113
SamplesHG00732
Known GenesEGFR, EGFR-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228640
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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