A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289675



Internal ID22136441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133553313..133598528hg38UCSC Ensembl
Outerchr9:136418435..136463650hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg382377
hg192377
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230750
Supporting Variants
SamplesHG00513
Known GenesADAMTSL2, FAM163B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289675
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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