A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274285



Internal ID22198243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1310847..1325568hg38UCSC Ensembl
Outerchr4:1304635..1319356hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228874
Supporting Variants
SamplesHG00732
Known GenesMAEA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274285
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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