A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226627



Internal ID22369363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131811196..131848980hg38UCSC Ensembl
Outerchr7:131495955..131533739hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280127
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226627
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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