A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277820



Internal ID22207249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:168584..267248hg38UCSC Ensembl
Outerchr7:168584..307214hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224277
Supporting Variants
SamplesHG00732
Known GenesFAM20C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277820
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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