A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289647



Internal ID22192994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:130953461..130966957hg38UCSC Ensembl
Outerchr9:133828848..133842344hg19UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg383613
hg193613
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240676
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289647
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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