A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212266



Internal ID22359571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154777733..154783969hg38UCSC Ensembl
Outerchr7:154569443..154575679hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg381390
hg191390
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278633
SamplesNA19238
Known GenesDPP6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212266
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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