A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215614



Internal ID22361883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138646139..138657727hg38UCSC Ensembl
Outerchr7:138330884..138342472hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381233
hg191233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280183, nssv14280180, nssv14280181, nssv14280182, nssv14280179, nssv14280184
SamplesNA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesSVOPL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215614
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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