A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220574



Internal ID22365231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99851936..99878716hg38UCSC Ensembl
Outerchr7:99449559..99476339hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3826781
hg1926781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277592, nssv14277590, nssv14277591
SamplesNA19238, HG00732, NA19240
Known GenesCYP3A43, OR2AE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220574
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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