A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211358



Internal ID22358940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:104816974..104836145hg38UCSC Ensembl
Outerchr7:104457421..104476592hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38771
hg19771
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279682, nssv14279683
SamplesNA19239, HG00732
Known GenesLHFPL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211358
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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