A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225209



Internal ID22368409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:68750731..68767438hg38UCSC Ensembl
Outerchr7:68215718..68232425hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279256, nssv14279254, nssv14279261, nssv14279258, nssv14279257, nssv14279259, nssv14279255, nssv14279262, nssv14279260
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225209
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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