A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289706



Internal ID22278872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133994369..134026478hg38UCSC Ensembl
Outerchr9:136859491..136891600hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381385
hg191385
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231998
Supporting Variants
SamplesNA19239
Known GenesLINC00094
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289706
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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