A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212129



Internal ID22359472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:866865..872594hg38UCSC Ensembl
Outerchr7:906502..912231hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280056, nssv14280055
SamplesHG00731, HG00732
Known GenesSUN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212129
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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