A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253136



Internal ID22130276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93210556..93223766hg38UCSC Ensembl
Outerchr9:95972838..95986048hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241085
Supporting Variants
SamplesHG00513
Known GenesWNK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253136
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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