A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229764



Internal ID22371503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158583682..158604500hg38UCSC Ensembl
Outerchr7:158376374..158397192hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3810923
hg1910923
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8944n152
Supporting Variantsnssv14280107, nssv14278725, nssv14280105, nssv14280106, nssv14278726, nssv14279532
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733
Known GenesMIR5707, PTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229764
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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