A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283523



Internal ID22255161
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242961
Supporting Variants
SamplesNA19238
Known GenesSPATA31C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283523
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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