A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194286



Internal ID22344618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:79966423..79976145hg38UCSC Ensembl
Outerchr4:80887577..80897299hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg389723
hg199723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272933, nssv14272927, nssv14272934, nssv14272929, nssv14272931, nssv14272926, nssv14272930, nssv14272928, nssv14272932
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesANTXR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194286
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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