A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253189



Internal ID22185403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:129449573..129468068hg38UCSC Ensembl
Outerchr9:132211852..132230347hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38660
hg19660
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238314
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253189
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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