A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279683



Internal ID22278012
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211358
Supporting Variants
SamplesNA19239
Known GenesLHFPL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279683
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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