A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277838



Internal ID22121431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:493712..496888hg38UCSC Ensembl
Outerchr7:533349..536525hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381419
hg191419
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214047
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277838
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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