A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277391



Internal ID22197989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:168584..267248hg38UCSC Ensembl
Outerchr7:168584..307214hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3898665
hg19138631
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214209
Supporting Variants
SamplesHG00732
Known GenesFAM20C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277391
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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