A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225341



Internal ID22365173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:24392630..24428715hg38UCSC Ensembl
Outerchr7:24432249..24468334hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381863
hg191863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280268, nssv14280267
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225341
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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