A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242961



Internal ID22375434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87918101..87934580hg38UCSC Ensembl
Outerchr9:90533016..90549495hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg384957
hg194957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9647n152
Supporting Variantsnssv14283523
SamplesNA19238
Known GenesSPATA31C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242961
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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