A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277832



Internal ID22141231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:479766..496888hg38UCSC Ensembl
Outerchr7:519403..536525hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382344
hg192344
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215297
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277832
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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