A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227096



Internal ID22369695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:106626627..106632977hg38UCSC Ensembl
Outerchr7:106267073..106273423hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280022
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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