A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226917



Internal ID22369565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:97416523..97423515hg38UCSC Ensembl
Outerchr7:97045835..97052827hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385987
hg195987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279498, nssv14279499
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226917
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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