A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216915



Internal ID22362754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:78991086..79039142hg38UCSC Ensembl
Outerchr7:78620402..78668458hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3848057
hg1948057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277412
SamplesHG00731
Known GenesMAGI2, MAGI2-AS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216915
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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