A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283593



Internal ID22315042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:98594658..98611936hg38UCSC Ensembl
Outerchr9:101356940..101374218hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg381066
hg191066
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231031
Supporting Variants
SamplesNA19240
Known GenesGABBR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283593
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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