A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220997



Internal ID22365526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1897425..1930862hg38UCSC Ensembl
Outerchr7:1937061..1970498hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280251
SamplesHG00512
Known GenesMAD1L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220997
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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