A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226390



Internal ID22369208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:52645018..52660059hg38UCSC Ensembl
Outerchr7:52712714..52727755hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg382057
hg192057
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280230
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226390
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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