A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229559



Internal ID22371370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158583682..158603826hg38UCSC Ensembl
Outerchr7:158376374..158396518hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg388015
hg198015
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8944n152
Supporting Variantsnssv14280224, nssv14280223
SamplesNA19239, NA19240
Known GenesMIR5707, PTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229559
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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