A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289690



Internal ID22201258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133751618..133765649hg38UCSC Ensembl
Outerchr9:136616740..136630771hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38906
hg19906
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234228
Supporting Variants
SamplesHG00732
Known GenesVAV2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289690
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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