A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253102



Internal ID22116032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136913530..136934078hg38UCSC Ensembl
Outerchr9:139807982..139828530hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240647
Supporting Variants
SamplesHG00512
Known GenesTRAF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253102
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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