A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272847



Internal ID22198017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:97574200..97633805hg38UCSC Ensembl
Outerchr4:98495351..98554956hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3859606
hg1959606
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196353
Supporting Variants
SamplesHG00732
Known GenesSTPG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272847
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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