A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227413



Internal ID22369918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:886113..944895hg38UCSC Ensembl
Outerchr7:925750..984531hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg384629
hg194629
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8331n152
Supporting Variantsnssv14280247, nssv14280244, nssv14280246, nssv14280245
SamplesHG00512, HG00731, HG00732, HG00733
Known GenesADAP1, GET4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227413
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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