A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272952



Internal ID22265249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88163549..88215532hg38UCSC Ensembl
Outerchr4:89084701..89136684hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3851984
hg1951984
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198442
Supporting Variants
SamplesNA19238
Known GenesABCG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272952
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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