A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282944



Internal ID22256750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:35491407..35498638hg38UCSC Ensembl
Outerchr9:35491404..35498635hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg381437
hg191437
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245253
Supporting Variants
SamplesNA19238
Known GenesRUSC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282944
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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