A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281426



Internal ID22273001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136554132..136652547hg38UCSC Ensembl
Outerchr9:139448584..139546999hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241061
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281426
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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