A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274267



Internal ID22198238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88163549..88205279hg38UCSC Ensembl
Outerchr4:89084701..89126431hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg382130
hg192130
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220967
Supporting Variants
SamplesHG00732
Known GenesABCG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274267
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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