A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273982



Internal ID22132781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7463973..7501238hg38UCSC Ensembl
Outerchr4:7465700..7502965hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222127
Supporting Variants
SamplesHG00513
Known GenesSORCS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273982
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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